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:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria		88
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive		15
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12		16
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9		2
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement		71
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations		1
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12		18
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria		948
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7		167
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4		102
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4		102
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3		106
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia		21
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5		23
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1		111
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0007362	HP:0007362	Aplasia/Hypoplasia of the brainstem	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional	88
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.	88
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.	16
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	HP:0040284 - Very rare	2
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	HP:0040283 - Occasional	427
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement	HP:0040282 - Frequent	71
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.	2
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	.	1
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0007362	HP:0002365	Hypoplasia of the brainstem	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:0007362	HP:0002365	Hypoplasia of the brainstem	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.	221
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional	948
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0007362	HP:0002365	Hypoplasia of the brainstem	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:0007362	HP:0002365	Hypoplasia of the brainstem	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	66
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	3
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	84
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	57
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	102
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent	102
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.	102
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040283 - Occasional	21
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	.	14
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5	HP:0040283 - Occasional	23
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.	64
HP:0007362	HP:0002365	Hypoplasia of the brainstem	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:0007362	HP:0002365	Hypoplasia of the brainstem	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0007362	HP:0002365	Hypoplasia of the brainstem	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14