Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal corpus callosum morphology (HP:0001273)

Grandparent Node:
Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Parent Node:
Aplasia/Hypoplasia of the corpus callosum (HP:0007370)

..Starting node
..Agenesis of corpus callosum (HP:0001274)

Term ID:

1274

Name:

Agenesis of corpus callosum

Synonym:

Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum

Definition:

Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.

Comments:

Reference:

HP:0001274

Genes and Diseases:

Child Nodes:

........

Partial agenesis of the corpus callosum (HP:0001338)

Sister Nodes:

Hypoplasia of the corpus callosum (HP:0002079)

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:0001274	HP:0001274	Agenesis of corpus callosum	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	HP:0040283 - Occasional	123
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare	9
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.	9
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent	219
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040281 - Very frequent	166
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040281 - Very frequent	166
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional	38
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	HP:0040283 - Occasional	8
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11		200
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal		13
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent	101
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040283 - Occasional	9
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional	36
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1	HP:0040284 - Very rare	36
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent	72
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	EMX2 CL E G H	2018	3341	OMIM:269160	SCHIZENCEPHALY		7
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent	7
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent	40
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	HP:0040283 - Occasional	172
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	172
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	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:0001274	HP:0001274	Agenesis of corpus callosum	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040284 - Very rare	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.	28
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040283 - Occasional	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	21
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent	39
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.	6
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent	31
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent	5
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent	141
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	10
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG		4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent	167
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2	.	167
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040282 - Frequent	167
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040281 - Very frequent	196
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.	134
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040283 - Occasional	134
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040283 - Occasional	134
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	183
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.	96
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	96
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	85
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040282 - Frequent	73
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	41
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040282 - Frequent	37
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD		37
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional	98
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	HP:0040283 - Occasional	52
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	7
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	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:0001274	HP:0001274	Agenesis of corpus callosum	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	13
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.	90
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional	9
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	334
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	167
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures		113
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SHH CL E G H	6469	10848	OMIM:269160	SCHIZENCEPHALY		67
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SIX3 CL E G H	6496	10889	OMIM:269160	SCHIZENCEPHALY		32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome	HP:0040281 - Very frequent	163
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040282 - Frequent	36
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type		36
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040282 - Frequent	22
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	.	22
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040282 - Frequent	33
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	33
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	24
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	82
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040282 - Frequent	21
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040284 - Very rare	39
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.	64
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional	64
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11	.	5
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.	16
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	.	5
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0001274	HP:0001274	Agenesis of corpus callosum	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.	20
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.	72
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.	1
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040284 - Very rare	3
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome	.	289
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040282 - Frequent	73
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.	36
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent	2
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0001274	HP:0001338	Partial agenesis of the corpus callosum	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.

Genes (341) :ABAT ACTB ACTG1 ADAT3 AHI1 ALX1 ALX3 ALX4 AMER1 AMT ANKLE2 AP1G1 ARID1A ARID1B ARID2 ARNT2 ARX ASPM ASXL1 ATRX B3GALNT2 B3GLCT B4GAT1 BMP4 BUB1B C12ORF57 C2CD3 CARS1 CASZ1 CC2D2A CDC40 CDC42BPB CDH2 CDK13 CDK5 CDK5RAP2 CDK6 CDK8 CDON CENPE CENPF CENPJ CEP120 CEP135 CEP152 CEP41 CEP63 CFC1 CILK1 CIT CLCN3 CNOT1 COL4A1 COPB2 COX1 COX2 COX3 COX7B CPLANE1 CPLX1 CPT2 CREBBP CRPPA CSF1R CTBP1 CTU2 CWF19L1 CYP11A1 CYTB DACT1 DAG1 DCC DCHS1 DCX DDX59 DHCR24 DHCR7 DHX16 DIS3L2 DISC1 DISP1 DLL1 DNAL4 DPF2 DPH1 DPYD DPYSL5 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 EFNB1 EHMT1 EML1 EMX2 EOMES EP300 EPG5 ERCC2 ERCC3 ERCC5 ERCC6 FANCD2 FANCI FAT4 FCSK FGF8 FGFR1 FGFR2 FGFRL1 FH FIG4 FKRP FKTN FLI1 FLVCR2 FOXA2 FOXG1 FOXH1 FRMD4A FUZ GABRD GAS1 GCSH GDF1 GLDC GLI2 GLI3 GMPPB GPC3 GPC4 GPSM2 GPX4 GTF2E2 GTF2H5 H3-3A HCCS HESX1 HIBCH HNRNPK HNRNPR HNRNPU HS2ST1 HSPA9 HSPG2 HYLS1 IFT80 IGBP1 INPP5E KANSL1 KAT5 KAT6B KATNB1 KCNAB2 KDM4B KDM5B KIAA0753 KIDINS220 KIF14 KIF15 KIF7 KNL1 KRAS L1CAM LARGE1 LETM1 LHX3 LHX4 LONP1 LRP2 LRRC32 LUZP1 MAN2C1 MBTPS2 MCM7 MCPH1 MDH1 MED12 MED12L MED25 METTL5 MFSD2A MID1 MKS1 MLH1 MMP23B MPLKIP MRPS16 MRPS25 MTHFR NARS2 NCAPD3 ND1 ND4 ND5 ND6 NDE1 NDUFAF5 NDUFB11 NELFA NFIA NFIX NKX2-1 NODAL NPHP1 NSD1 NSD2 NTN1 OFD1 OSTM1 OTUD5 OTX2 PDHA1 PDHB PDHX PDPN PDYN PGAP1 PHC1 PHGDH PIEZO2 PIGG PIGN PLCH1 PLXNA1 PMS2 POLR2A POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 PPIL1 PPP1R12A PPP2R1A PPP2R3C PRDM16 PRKCZ PROKR2 PROP1 PRRX1 PTCH1 PTDSS1 PUF60 PYCR1 PYCR2 RAB3GAP1 RAB3GAP2 RAC3 RAD51 RECQL4 RELN RERE RNF113A RNU4ATAC RPGRIP1L RSPO2 RTTN RXYLT1 SALL1 SASS6 SCYL2 SEC31A SF3B2 SHANK3 SHH SIX3 SIX6 SKI SLC12A2 SLC12A6 SLC25A1 SLC25A19 SLC30A9 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMO SOX11 SOX2 SOX3 SOX4 SPEN SPG11 STAG2 STIL SUFU SUPT16H SUZ12 TAF13 TARS1 TCF12 TCTN3 TDGF1 TGIF1 THUMPD1 TMEM237 TMEM260 TNR TP73 TRAPPC10 TRAPPC12 TRAPPC14 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTC5 TUBA1A TUBA8 TUBB TUBB2B TUBB3 UBE4B VAC14 VANGL2 VAX1 WDR35 WDR4 WDR62 WNT3 YARS1 YY1 ZBTB18 ZEB2 ZIC1 ZIC2 ZNF148 ZNF335 ZNF462 ZNF699 ZSWIM6

Diseases (301) :OMIM:613163 OMIM:243310 OMIM:614583 ORPHA:363528 OMIM:615286 ORPHA:220493 ORPHA:306542 OMIM:136760 ORPHA:228390 OMIM:300373 OMIM:605899 ORPHA:2512 OMIM:616681 OMIM:619548 ORPHA:1465 ORPHA:251056 OMIM:135900 ORPHA:3157 ORPHA:2508 OMIM:300004 OMIM:300215 ORPHA:452 OMIM:608716 ORPHA:97297 OMIM:605039 ORPHA:847 ORPHA:899 OMIM:261540 OMIM:615287 ORPHA:139471 OMIM:257300 OMIM:218340 ORPHA:434179 ORPHA:33364 ORPHA:1606 OMIM:619111 OMIM:619302 OMIM:619841 OMIM:618929 OMIM:617360 OMIM:616342 OMIM:604804 OMIM:618748 ORPHA:93925 OMIM:614226 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 OMIM:616051 OMIM:243605 OMIM:605376 OMIM:612651 OMIM:617090 OMIM:619512 OMIM:619517 ORPHA:556955 ORPHA:550 ORPHA:2556 OMIM:309801 OMIM:277170 OMIM:194190 ORPHA:280 ORPHA:228308 OMIM:608836 OMIM:180849 OMIM:614643 OMIM:618476 OMIM:618142 ORPHA:453521 ORPHA:168558 ORPHA:289548 ORPHA:137675 ORPHA:857 ORPHA:238722 OMIM:617542 OMIM:157600 ORPHA:314679 OMIM:300067 ORPHA:2919 OMIM:174300 OMIM:602398 ORPHA:35107 OMIM:270400 OMIM:618733 OMIM:267000 ORPHA:171703 ORPHA:459061 OMIM:274270 OMIM:619435 OMIM:618492 OMIM:613091 ORPHA:93271 OMIM:304110 ORPHA:96147 OMIM:600348 OMIM:269160 OMIM:242840 ORPHA:1493 OMIM:616570 OMIM:214150 OMIM:227646 OMIM:609053 OMIM:618324 OMIM:613001 ORPHA:2396 OMIM:615465 OMIM:147950 OMIM:101200 ORPHA:87 OMIM:123790 OMIM:606812 OMIM:216340 ORPHA:3472 ORPHA:370959 OMIM:236670 OMIM:613153 OMIM:253800 ORPHA:2308 OMIM:225790 ORPHA:95494 ORPHA:261144 OMIM:616819 ORPHA:466688 ORPHA:1136 OMIM:208530 OMIM:610829 OMIM:175700 ORPHA:380 ORPHA:373 OMIM:312870 OMIM:604213 ORPHA:93317 OMIM:619720 ORPHA:226307 OMIM:182230 OMIM:250620 ORPHA:352665 ORPHA:453504 OMIM:620073 ORPHA:238769 OMIM:619194 OMIM:616854 ORPHA:2189 OMIM:236680 ORPHA:52055 OMIM:300472 ORPHA:363958 ORPHA:363965 OMIM:619103 ORPHA:85201 OMIM:606170 OMIM:616212 ORPHA:89844 OMIM:619320 OMIM:618109 OMIM:617127 OMIM:617296 OMIM:619501 OMIM:616258 ORPHA:261323 OMIM:200990 OMIM:607131 OMIM:614120 ORPHA:166024 ORPHA:3339 OMIM:304100 OMIM:307000 ORPHA:2182 OMIM:303350 ORPHA:2466 ORPHA:79243 OMIM:222448 OMIM:619074 OMIM:619775 ORPHA:2273 OMIM:618959 OMIM:309520 OMIM:305450 OMIM:618872 ORPHA:464738 ORPHA:2745 OMIM:300000 OMIM:249000 OMIM:276300 OMIM:234050 OMIM:610498 OMIM:619025 ORPHA:563612 OMIM:616239 OMIM:614019 OMIM:605013 OMIM:618238 OMIM:300952 OMIM:613735 OMIM:602535 ORPHA:209905 ORPHA:220497 OMIM:117550 OMIM:311200 ORPHA:2750 ORPHA:85179 OMIM:301056 ORPHA:990 OMIM:312170 ORPHA:255138 OMIM:614111 OMIM:245349 ORPHA:255182 OMIM:610245 ORPHA:401820 OMIM:615802 OMIM:256520 ORPHA:2461 OMIM:248700 ORPHA:2059 OMIM:619895 OMIM:619955 OMIM:619101 OMIM:618603 ORPHA:3455 OMIM:264090 OMIM:615249 OMIM:613150 OMIM:305600 OMIM:619301 OMIM:618820 OMIM:616362 ORPHA:457284 OMIM:618419 OMIM:202650 OMIM:610828 ORPHA:2658 OMIM:151050 ORPHA:508498 OMIM:612940 ORPHA:481152 OMIM:600118 ORPHA:401830 OMIM:618577 OMIM:218600 OMIM:210710 ORPHA:3301 ORPHA:468631 OMIM:614833 OMIM:618766 OMIM:618651 OMIM:164210 ORPHA:48652 OMIM:157170 OMIM:206900 OMIM:619083 OMIM:218000 ORPHA:1496 OMIM:618197 ORPHA:99742 OMIM:607196 OMIM:617595 OMIM:618779 ORPHA:1553 OMIM:601707 ORPHA:77298 OMIM:619312 OMIM:604360 OMIM:301043 OMIM:619480 OMIM:618786 OMIM:615314 OMIM:614815 OMIM:619989 OMIM:617478 OMIM:619653 OMIM:619466 ORPHA:500144 OMIM:617669 OMIM:619244 OMIM:611603 ORPHA:171680 ORPHA:250972 OMIM:615771 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:600638 OMIM:614402 OMIM:618346 OMIM:619418 ORPHA:506358 OMIM:612337 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:616602 OMIM:618736 OMIM:617260 OMIM:615095 OMIM:618619 OMIM:619488 OMIM:603671 ORPHA:1827

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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