Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6		11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency		13
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria		88
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis		114
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	HP:0040281 - Very frequent	13
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive		512
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type		72
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type		72
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia		19
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	43
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant		46
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		32
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type		118
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	636
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25		5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis		342
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	15
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive		15
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12		16
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7		24
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis		156
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis		158
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	33
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	157
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	184
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant		493
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis		64
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis		124
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis		148
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly		48
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis		52
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis		61
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis		42
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis		134
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria	HP:0040282 - Frequent	34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome		35
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement		71
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	136
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis		70
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis		62
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy		25
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome		132
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital		97
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	183
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease		35
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	516
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	516
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040283 - Occasional	47
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4		96
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome		40
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis		15
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	OXR1 CL E G H	55074	15822	OMIM:213000	Cerebellar hypoplasia		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		26
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	352
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis		11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	40
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form		60
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	180
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3		180
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8		33
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12		18
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	213
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	221
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria		948
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis		95
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2		334
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1		90
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome		57
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis		129
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis		109
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	167
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional	65
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		77
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040281 - Very frequent	4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome		67
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6		63
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria		28
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly		36
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type		36
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent	93
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040281 - Very frequent	14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis		48
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24		76
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		238
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		60
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13		4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	166
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome		158
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4		102
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A		102
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4		102
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5		102
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3		106
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7		39
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1		61
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis		66
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	173
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	78
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	777
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1		111
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion		20
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent	14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	155
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV		12
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11		2
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14		49
HP:0007360	HP:0007360	Aplasia/Hypoplasia of the cerebellum	0	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent	4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	11
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040283 - Occasional	13
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria		88
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria		88
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.	88
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	114
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	HP:0040283 - Occasional	512
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent	72
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type		72
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.	1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia		19
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent	7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	HP:0040283 - Occasional	34
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040281 - Very frequent	118
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.	3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.	20
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25	.	5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15		34
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15		34
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	342
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.	16
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040283 - Occasional	24
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	156
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	158
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	57
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent	2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	HP:0040283 - Occasional	65
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	65
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	HP:0040283 - Occasional	3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040283 - Occasional	3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional	18
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	HP:0040283 - Occasional	427
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0007360	HP:0012642	Cerebellar agenesis	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent	7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040282 - Frequent	40
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant		493
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.	1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	64
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent	43
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040283 - Occasional	199
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040283 - Occasional	56
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	HP:0040283 - Occasional	34
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040282 - Frequent	3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	124
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040283 - Occasional	2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional	6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	148
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly		48
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly		48
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	52
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	61
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	HP:0040283 - Occasional	4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	42
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	24
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG		4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis	HP:0040282 - Frequent	134
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome		35
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome		35
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement	HP:0040282 - Frequent	71
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	70
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	62
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.	2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040281 - Very frequent	25
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	.	1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome		132
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital		97
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital		97
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.	96
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.	1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040283 - Occasional	40
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	15
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040281 - Very frequent	55
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	OXR1 CL E G H	55074	15822	OMIM:213000	Cerebellar hypoplasia	.	1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	HP:0040283 - Occasional	24
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.	26
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	26
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	11
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	.	11
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent	7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53	.	7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040283 - Occasional	60
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8	.	33
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	HP:0040283 - Occasional	18
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria		948
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria		948
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0007360	HP:0012642	Cerebellar agenesis	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent	22
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	95
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	45
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2		334
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	.	90
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	129
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	109
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent	10
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	HP:0040281 - Very frequent	77
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	77
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive	HP:0040283 - Occasional	4
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	66
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	67
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.	28
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly		36
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly		36
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.	36
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.	12
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	48
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16	.	14
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	.	13
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.	76
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	238
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	60
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.	4
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	84
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	57
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	102
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4		102
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A		102
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4		102
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5		102
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3		106
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3		106
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	.	14
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.	61
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	66
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2		27
HP:0007360	HP:0012642	Cerebellar agenesis	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV	.	12
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69	HP:0040284 - Very rare
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0007360	HP:0001321	Cerebellar hypoplasia	1	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14		49
HP:0007360	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14		49
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	88
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	175
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	175
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	62
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0007360	HP:0100307	Cerebellar hemisphere hypoplasia	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	28
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	34
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	247
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	5
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	7
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	7
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional	34
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	342
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	90
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	90
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	57
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	HP:0040283 - Occasional	3
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.	4
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	HP:0040283 - Occasional	63
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent	1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	31
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional	48
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	111
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	111
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	24
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0007360	HP:0100307	Cerebellar hemisphere hypoplasia	2	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0007360	HP:0100307	Cerebellar hemisphere hypoplasia	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	127
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	127
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital	.	97
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	.	150
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	85
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive	.
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.	201
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0007360	HP:0002951	Partial absence of cerebellar vermis	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0007360	HP:0002951	Partial absence of cerebellar vermis	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040284 - Very rare	231
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	4
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0007360	HP:0002951	Partial absence of cerebellar vermis	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0007360	HP:0002951	Partial absence of cerebellar vermis	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0007360	HP:0002951	Partial absence of cerebellar vermis	2	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0007360	HP:0100307	Cerebellar hemisphere hypoplasia	2	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.	27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	948
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0007360	HP:0100307	Cerebellar hemisphere hypoplasia	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	85
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	90
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	135
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.	129
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	167
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	167
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	66
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent	36
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0007360	HP:0100307	Cerebellar hemisphere hypoplasia	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	124
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	15
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	45
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	76
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	31
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent	6
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	39
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	45
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	45
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	33
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	82
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	82
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	82
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	166
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	166
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	61
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	3
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	84
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	57
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0007360	HP:0100307	Cerebellar hemisphere hypoplasia	2	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	102
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent	102
HP:0007360	HP:0006955	Olivopontocerebellar hypoplasia	2	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5	.	102
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0007360	HP:0007063	Aplasia of the inferior half of the cerebellar vermis	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0007360	HP:0002335	Agenesis of cerebellar vermis	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0007360	HP:0100307	Cerebellar hemisphere hypoplasia	2	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	49
HP:0007360	HP:0001320	Cerebellar vermis hypoplasia	2	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	.	49
HP:0007360	HP:0001305	Dandy-Walker malformation	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0007360	HP:0001305	Dandy-Walker malformation	3	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional	13
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0007360	HP:0001305	Dandy-Walker malformation	3	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0007360	HP:0001305	Dandy-Walker malformation	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG	HP:0040281 - Very frequent	85
HP:0007360	HP:0001305	Dandy-Walker malformation	3	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0007360	HP:0001305	Dandy-Walker malformation	3	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0007360	HP:0001305	Dandy-Walker malformation	3	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0007360	HP:0001305	Dandy-Walker malformation	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0007360	HP:0001305	Dandy-Walker malformation	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0007360	HP:0001305	Dandy-Walker malformation	3	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0007360	HP:0001305	Dandy-Walker malformation	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional	38
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0007360	HP:0001305	Dandy-Walker malformation	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	5
HP:0007360	HP:0001305	Dandy-Walker malformation	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	76
HP:0007360	HP:0001305	Dandy-Walker malformation	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0007360	HP:0001305	Dandy-Walker malformation	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0007360	HP:0001305	Dandy-Walker malformation	3	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0007360	HP:0001305	Dandy-Walker malformation	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	114
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	17
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0007360	HP:0001305	Dandy-Walker malformation	3	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional	101
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0007360	HP:0001305	Dandy-Walker malformation	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	HP:0040284 - Very rare	6
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	91
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	HP:0040283 - Occasional	3
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0007360	HP:0001305	Dandy-Walker malformation	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0007360	HP:0001305	Dandy-Walker malformation	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0007360	HP:0001305	Dandy-Walker malformation	3	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0007360	HP:0001305	Dandy-Walker malformation	3	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0007360	HP:0001305	Dandy-Walker malformation	3	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0007360	HP:0001305	Dandy-Walker malformation	3	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0007360	HP:0001305	Dandy-Walker malformation	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0007360	HP:0001305	Dandy-Walker malformation	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007360	HP:0001305	Dandy-Walker malformation	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007360	HP:0001305	Dandy-Walker malformation	3	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0007360	HP:0001305	Dandy-Walker malformation	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0007360	HP:0001305	Dandy-Walker malformation	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0007360	HP:0001305	Dandy-Walker malformation	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0007360	HP:0001305	Dandy-Walker malformation	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional
HP:0007360	HP:0001305	Dandy-Walker malformation	3	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	113
HP:0007360	HP:0001305	Dandy-Walker malformation	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0007360	HP:0001305	Dandy-Walker malformation	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0007360	HP:0001305	Dandy-Walker malformation	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	9
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0007360	HP:0001305	Dandy-Walker malformation	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	730
HP:0007360	HP:0001305	Dandy-Walker malformation	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	1
HP:0007360	HP:0001305	Dandy-Walker malformation	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0007360	HP:0001305	Dandy-Walker malformation	3	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0007360	HP:0001305	Dandy-Walker malformation	3	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	196
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent	35
HP:0007360	HP:0001305	Dandy-Walker malformation	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0007360	HP:0001305	Dandy-Walker malformation	3	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	HP:0040282 - Frequent	136
HP:0007360	HP:0001305	Dandy-Walker malformation	3	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0007360	HP:0001305	Dandy-Walker malformation	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0007360	HP:0001305	Dandy-Walker malformation	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0007360	HP:0001305	Dandy-Walker malformation	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0007360	HP:0001305	Dandy-Walker malformation	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0007360	HP:0001305	Dandy-Walker malformation	3	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0007360	HP:0001305	Dandy-Walker malformation	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	72
HP:0007360	HP:0001305	Dandy-Walker malformation	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0007360	HP:0001305	Dandy-Walker malformation	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0007360	HP:0001305	Dandy-Walker malformation	3	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040281 - Very frequent	157
HP:0007360	HP:0001305	Dandy-Walker malformation	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157
HP:0007360	HP:0001305	Dandy-Walker malformation	3	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	102
HP:0007360	HP:0001305	Dandy-Walker malformation	3	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0007360	HP:0001305	Dandy-Walker malformation	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0007360	HP:0001305	Dandy-Walker malformation	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0007360	HP:0001305	Dandy-Walker malformation	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0007360	HP:0001305	Dandy-Walker malformation	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0007360	HP:0001305	Dandy-Walker malformation	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0007360	HP:0001305	Dandy-Walker malformation	3	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007360	HP:0001305	Dandy-Walker malformation	3	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0007360	HP:0001305	Dandy-Walker malformation	3	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0007360	HP:0001305	Dandy-Walker malformation	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0007360	HP:0001305	Dandy-Walker malformation	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0007360	HP:0001305	Dandy-Walker malformation	3	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0007360	HP:0001305	Dandy-Walker malformation	3	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0007360	HP:0001305	Dandy-Walker malformation	3	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0007360	HP:0001305	Dandy-Walker malformation	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0007360	HP:0001305	Dandy-Walker malformation	3	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0007360	HP:0001305	Dandy-Walker malformation	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0007360	HP:0001305	Dandy-Walker malformation	3	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0007360	HP:0001305	Dandy-Walker malformation	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0007360	HP:0001305	Dandy-Walker malformation	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	73
HP:0007360	HP:0001305	Dandy-Walker malformation	3	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0007360	HP:0001305	Dandy-Walker malformation	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0007360	HP:0001305	Dandy-Walker malformation	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0007360	HP:0001305	Dandy-Walker malformation	3	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	2
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0007360	HP:0001305	Dandy-Walker malformation	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	HP:0040283 - Occasional	45
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0007360	HP:0007068	Inferior cerebellar vermis hypoplasia	3	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	2
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	106
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional	14
HP:0007360	HP:0001305	Dandy-Walker malformation	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0007360	HP:0001305	Dandy-Walker malformation	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0007360	HP:0001305	Dandy-Walker malformation	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040282 - Frequent	27
HP:0007360	HP:0001305	Dandy-Walker malformation	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0007360	HP:0001305	Dandy-Walker malformation	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0007360	HP:0001305	Dandy-Walker malformation	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0007360	HP:0001305	Dandy-Walker malformation	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0007360	HP:0001305	Dandy-Walker malformation	3	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0007360	HP:0001305	Dandy-Walker malformation	3	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0007360	HP:0001305	Dandy-Walker malformation	3	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5