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
..Hypoplasia of the corpus callosum (HP:0002079)

Term ID:

2079

Name:

Hypoplasia of the corpus callosum

Synonym:

Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum

Definition:

Underdevelopment of the corpus callosum.

Comments:

Reference:

HP:0002079

Genes and Diseases:

Child Nodes:

........

Hypodysplasia of the corpus callosum (HP:0006849)

Sister Nodes:

Agenesis of corpus callosum (HP:0001274)

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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare	9
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.	19
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	227
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional	46
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	HP:0040283 - Occasional	21
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	49
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	48
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	41
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	18
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040281 - Very frequent	165
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	HP:0040283 - Occasional	71
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent	100
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent	7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional	35
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040282 - Frequent	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	HP:0040284 - Very rare	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.	7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome		45
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040283 - Occasional	67
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional	67
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.	88
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	HP:0040283 - Occasional	38
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040283 - Occasional	18
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	HP:0040283 - Occasional	18
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare	60
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent	29
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional	57
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.	118
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	HP:0040283 - Occasional	427
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040283 - Occasional	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	.	5
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040282 - Frequent	18
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	HP:0040283 - Occasional	18
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.	4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040281 - Very frequent	145
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant		493
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent	14
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.	36
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.	36
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	HP:0040283 - Occasional	4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040283 - Occasional	4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.	108
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	HP:0040284 - Very rare	108
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional	434
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional	434
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional	10
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional	10
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	HP:0040283 - Occasional	13
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040284 - Very rare	16
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly	.	10
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	10
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	HP:0040284 - Very rare
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	HP:0040283 - Occasional	528
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040283 - Occasional	528
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.	15
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040282 - Frequent	167
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040282 - Frequent	132
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	48
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	HP:0040283 - Occasional	8
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	96
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.	19
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	HP:0040283 - Occasional	30
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040282 - Frequent	52
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent	40
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040284 - Very rare	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040282 - Frequent	37
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	121
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	231
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	231
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional	641
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia	.	194
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional	98
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent	7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11	.	38
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.	67
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.	90
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional	150
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040283 - Occasional	365
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	334
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.	60
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	HP:0040284 - Very rare
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1	HP:0040283 - Occasional	74
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.	4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040282 - Frequent	4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional	24
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional	19
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional	19
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent	287
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	HP:0040283 - Occasional	287
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent	28
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional	50
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	HP:0040283 - Occasional	12
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040283 - Occasional	12
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.	9
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent	21
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.	7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent	7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21	.	28
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040281 - Very frequent	16
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040282 - Frequent	52
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent	13
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040283 - Occasional	39
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.	158
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional	14
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5	.	23
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.	64
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.	13
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	278
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040283 - Occasional	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	23
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040282 - Frequent	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	HP:0040283 - Occasional	20
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia	.	177
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	HP:0040283 - Occasional	149
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	14
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	14
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040281 - Very frequent	189
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002079	HP:0002079	Hypoplasia of the 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:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome	.	1
HP:0002079	HP:0002079	Hypoplasia of the corpus callosum	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0002079	HP:0006849	Hypodysplasia of the corpus callosum	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76

Genes (446) :ACER3 ACO2 ACTL6B ADAR ADARB1 ADAT3 ADNP AHCY AHDC1 AIFM1 AIMP2 AKT3 ALDH6A1 ALDH7A1 ALG12 ALG2 ALG3 ALG8 ALX4 AMPD2 ANKRD11 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 ARFGEF2 ARHGAP31 ARID1B ARNT2 ARSI ARX ASNS ASPM ASXL1 ASXL3 ATL1 ATN1 ATP13A2 ATP6AP2 ATP6V1A BCOR BICD2 BRAT1 BRF1 BUB1B C2CD3 CARS1 CARS2 CASK CCDC174 CCDC88A CDC42 CDK10 CDK13 CDKL5 CEP120 CEP290 CHMP1A CLCN4 CLP1 CNOT3 CNP CNTNAP1 COASY COG2 COG4 COG6 COG7 COPB2 COX1 COX2 COX3 COX7B CRIPT CRPPA CSPP1 CTNNA2 CTNNB1 CTU2 CUL4B CYP2U1 DAG1 DARS1 DARS2 DCHS1 DCX DDHD2 DDX3X DDX6 DHCR7 DIAPH1 DMXL2 DOCK7 DPAGT1 DYNC1H1 DYNC1I2 DYRK1A EARS2 EBP EFNB1 EHMT1 EIF2AK2 EIF2S3 EMC1 EPRS1 ERLIN2 ERMARD EXOC2 EXOC7 EXOC8 EXOSC1 EXOSC8 EXTL3 FA2H FANCB FANCD2 FAT4 FBXL4 FBXW11 FDFT1 FDXR FGFR1 FGFR3 FIG4 FKRP FKTN FLCN FLNA FOXG1 FRMPD4 GABRA5 GABRB1 GAD1 GBA1 GBA2 GFER GFM1 GFM2 GJC2 GLRX5 GLUL GLYCTK GMPPB GNAO1 GOT2 GPSM2 GPT2 GRIA3 GRIA4 GRIN1 GRIN2A GRM7 GTPBP2 HACE1 HIC1 HIVEP2 HK1 HNRNPK HNRNPR HPDL HS2ST1 HSD17B4 HTRA2 HUWE1 IBA57 IER3IP1 IFIH1 IFT140 IFT52 IGF1R KANSL1 KAT8 KATNB1 KCNA1 KCNK4 KCNQ2 KCNT1 KCNT2 KCTD7 KDM1A KDM5B KIAA0753 KIDINS220 KIF2A KIF5C KIF7 KIFBP KMT2C LAMB1 LARGE1 LMNB1 LNPK LONP1 LSM11 LSS MACF1 MAF MAP1B MAPK8IP3 MAPKAPK5 MAPRE2 MBTPS2 MED12L MED25 MEF2C MFSD2A MID1 MINPP1 MOCS1 MOCS2 MOGS MRPS22 MTRFR NADK2 NALCN NANS NARS1 NARS2 ND1 ND4 ND5 ND6 NDE1 NDUFA2 NEDD4L NEUROD2 NEXMIF NF1 NFIA NFIX NHLRC2 NKX6-2 NMNAT1 NONO NOVA2 NR2F1 NRROS NT5C2 NUP188 OCA2 OGDHL OSGEP OTUD5 OTUD6B PAFAH1B1 PAH PARS2 PAX6 PCGF2 PCLO PCNT PDE6D PDHA1 PDHB PDHX PGAP1 PHGDH PIGA PIGB PIGG PIGN PIGP PIGQ PIGU PIK3R2 PITX1 PLAA PLPBP PNKP POGZ POLG2 POLR1C POLR2A POLR3A POLR3B POLR3GL POMT1 POMT2 POU3F3 PPFIBP1 PPP1R15B PPP1R21 PPP2CA PPP2R1A PRKDC PRMT7 PRPS1 PRUNE1 PSAP PSAT1 PTPN23 PUF60 PUS3 PYCR2 QARS1 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAI1 RALGAPA1 RARS1 RB1 RELN REPS1 RERE RHOBTB2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNF13 RNU4ATAC RNU7-1 RORA RSPRY1 RTTN RUSC2 SACS SAMHD1 SCN1B SCN2A SCN3A SEPSECS SETBP1 SH3PXD2B SHMT2 SHOC2 SIK1 SIN3A SIX6 SLC1A2 SLC1A4 SLC25A10 SLC25A22 SLC25A24 SLC35A2 SLC5A6 SLC6A8 SLC6A9 SMARCE1 SMC1A SMG9 SNIP1 SON SOX2 SOX3 SPATA5 SPATA5L1 SPG11 SPG21 SPTAN1 SRPX2 SSR4 STAG2 STAMBP STXBP1 SVBP SYNJ1 TAF1 TAF2 TARS2 TBC1D20 TBC1D23 TBCD TBCE TBCK TCF4 TECPR2 TGFB1 TMCO1 TMEM106B TMTC3 TMX2 TOE1 TOGARAM1 TP73 TRAPPC14 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRMT10A TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TTI2 TUBA1A TUBB TUBB2A TUBB2B TUBB3 TUBGCP2 TYROBP UBA5 UBE3A UBE3B UBTF UGP2 UNC80 USP7 USP9X VAMP2 VARS1 VARS2 VPS11 VPS50 VPS51 VPS53 VWA3B WAC WDR26 WDR45B WDR62 WDR73 WDR81 WLS WT1 WWOX YARS1 YIF1B YWHAE YY1 ZBTB20 ZEB2 ZFR ZFYVE26 ZMIZ1 ZNF148 ZNF462 ZNHIT3 ZSWIM6

Diseases (495) :OMIM:617762 OMIM:614559 OMIM:618468 OMIM:618470 ORPHA:51 OMIM:618862 ORPHA:363528 ORPHA:404448 ORPHA:88618 ORPHA:412069 OMIM:615829 ORPHA:83629 OMIM:300232 OMIM:618006 OMIM:615937 OMIM:614105 ORPHA:3006 ORPHA:79324 ORPHA:79326 ORPHA:79321 ORPHA:79325 OMIM:613451 OMIM:615809 OMIM:615686 ORPHA:261250 OMIM:617276 ORPHA:280763 OMIM:614066 OMIM:612936 ORPHA:306511 OMIM:613647 OMIM:618677 OMIM:608097 OMIM:100300 OMIM:135900 OMIM:615926 ORPHA:401815 ORPHA:1934 OMIM:615574 OMIM:608716 OMIM:605039 ORPHA:97297 OMIM:615485 OMIM:182600 OMIM:618494 ORPHA:513436 OMIM:300423 ORPHA:93952 OMIM:617403 OMIM:618012 OMIM:300166 OMIM:618291 OMIM:618056 ORPHA:444072 OMIM:257300 ORPHA:434179 OMIM:615948 OMIM:618891 ORPHA:477774 OMIM:616672 OMIM:616816 OMIM:617507 ORPHA:487796 OMIM:616737 OMIM:617694 OMIM:617360 OMIM:617761 OMIM:611134 OMIM:614961 ORPHA:485350 OMIM:300114 OMIM:615803 OMIM:618672 OMIM:619071 OMIM:616286 OMIM:618186 OMIM:615643 ORPHA:435934 OMIM:617395 ORPHA:263501 OMIM:613489 OMIM:614576 OMIM:608779 OMIM:617800 ORPHA:550 OMIM:300887 OMIM:615789 OMIM:614643 OMIM:615636 OMIM:618174 OMIM:615075 ORPHA:404473 OMIM:618142 OMIM:300354 ORPHA:320411 OMIM:615030 ORPHA:370997 OMIM:616538 OMIM:615281 ORPHA:137898 ORPHA:314679 OMIM:601390 ORPHA:2148 ORPHA:320380 OMIM:615033 OMIM:300958 ORPHA:457260 OMIM:618653 OMIM:270400 OMIM:616632 ORPHA:411986 OMIM:615859 ORPHA:86309 OMIM:614563 OMIM:618492 ORPHA:268261 ORPHA:464311 OMIM:614924 ORPHA:401973 ORPHA:1520 OMIM:304110 ORPHA:261652 OMIM:618877 OMIM:300148 OMIM:616875 OMIM:617951 ORPHA:209951 OMIM:611225 ORPHA:75857 OMIM:619306 OMIM:619072 OMIM:619076 OMIM:619304 OMIM:616081 ORPHA:508533 ORPHA:171629 ORPHA:329308 OMIM:612319 OMIM:300514 OMIM:227646 OMIM:615546 OMIM:615471 OMIM:618914 OMIM:618156 ORPHA:543470 OMIM:613001 OMIM:616482 ORPHA:85165 OMIM:216340 ORPHA:370968 OMIM:236670 OMIM:610883 ORPHA:555877 OMIM:300049 OMIM:613454 OMIM:300983 OMIM:618559 OMIM:617153 OMIM:619124 ORPHA:2072 OMIM:614409 ORPHA:330054 OMIM:609060 ORPHA:565624 OMIM:613206 OMIM:616859 OMIM:610015 ORPHA:941 OMIM:615473 OMIM:617493 OMIM:618721 OMIM:604213 OMIM:616281 ORPHA:477673 ORPHA:364028 OMIM:617864 ORPHA:208447 OMIM:614254 OMIM:617820 ORPHA:289266 ORPHA:163721 OMIM:618922 OMIM:617988 OMIM:616756 ORPHA:464282 ORPHA:531 OMIM:616977 OMIM:618547 ORPHA:352665 ORPHA:453504 OMIM:620073 OMIM:619026 OMIM:619194 OMIM:261515 OMIM:617248 OMIM:309590 ORPHA:468661 OMIM:615330 OMIM:614231 OMIM:266920 OMIM:617102 OMIM:270450 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:618974 OMIM:616212 ORPHA:89844 OMIM:618381 OMIM:613720 ORPHA:439218 OMIM:614959 OMIM:617771 OMIM:611726 OMIM:616728 ORPHA:477993 OMIM:618109 OMIM:619479 ORPHA:521390 OMIM:615411 OMIM:615282 OMIM:607131 ORPHA:166024 ORPHA:66629 OMIM:609460 OMIM:615191 OMIM:619179 OMIM:618090 OMIM:600373 ORPHA:79243 OMIM:618840 OMIM:618325 ORPHA:1272 OMIM:618918 OMIM:618443 OMIM:619869 OMIM:616734 OMIM:308205 OMIM:618872 OMIM:616449 ORPHA:464738 ORPHA:228384 OMIM:616486 ORPHA:2745 ORPHA:284339 OMIM:252150 OMIM:252160 OMIM:606056 ORPHA:79330 OMIM:611719 ORPHA:320375 ORPHA:254930 OMIM:615035 ORPHA:431361 ORPHA:371364 OMIM:610442 OMIM:619091 OMIM:616239 OMIM:618235 OMIM:617201 OMIM:618374 ORPHA:85277 ORPHA:363700 OMIM:613735 ORPHA:420179 OMIM:602535 OMIM:614753 OMIM:618278 ORPHA:527497 OMIM:619260 ORPHA:466791 OMIM:618859 ORPHA:401777 OMIM:618875 OMIM:613162 OMIM:618804 ORPHA:98794 OMIM:619701 OMIM:617729 OMIM:301056 OMIM:617452 ORPHA:217385 ORPHA:95232 ORPHA:2209 OMIM:618437 OMIM:106210 OMIM:618371 OMIM:608027 ORPHA:2637 OMIM:615665 ORPHA:255138 ORPHA:255182 OMIM:615802 ORPHA:79351 OMIM:300868 OMIM:618580 ORPHA:488635 OMIM:616917 ORPHA:280633 OMIM:617599 OMIM:618590 OMIM:603387 OMIM:119800 OMIM:617527 ORPHA:521426 OMIM:613402 OMIM:616364 ORPHA:468678 OMIM:618528 OMIM:616494 OMIM:618603 OMIM:607694 ORPHA:447896 OMIM:614381 OMIM:619234 OMIM:613155 OMIM:613156 OMIM:618604 OMIM:620024 OMIM:616817 ORPHA:391408 OMIM:619383 OMIM:618354 OMIM:616362 ORPHA:457284 OMIM:615966 ORPHA:464288 ORPHA:423479 OMIM:617481 OMIM:611721 ORPHA:284417 OMIM:618890 ORPHA:508488 ORPHA:508498 ORPHA:488627 OMIM:616420 ORPHA:481152 OMIM:615760 OMIM:614222 OMIM:619420 OMIM:600118 OMIM:614225 OMIM:617751 ORPHA:500159 OMIM:618577 ORPHA:1713 OMIM:618797 OMIM:616140 ORPHA:438114 ORPHA:1587 OMIM:617916 OMIM:616975 ORPHA:494344 OMIM:618004 OMIM:614922 OMIM:610329 OMIM:618379 ORPHA:544503 OMIM:210710 ORPHA:353298 OMIM:618060 ORPHA:457395 ORPHA:468631 OMIM:617773 ORPHA:98 OMIM:617938 ORPHA:2524 OMIM:613811 OMIM:269150 ORPHA:798 OMIM:249420 OMIM:619121 OMIM:607721 OMIM:613406 OMIM:206900 OMIM:617105 OMIM:616657 ORPHA:447997 OMIM:618972 OMIM:612289 OMIM:300896 ORPHA:356961 OMIM:618973 OMIM:300352 OMIM:617301 OMIM:616938 OMIM:301044 OMIM:616920 OMIM:614501 ORPHA:500150 OMIM:617140 ORPHA:67045 OMIM:616577 ORPHA:457351 OMIM:619616 ORPHA:2822 OMIM:616668 OMIM:604360 ORPHA:101001 OMIM:613477 OMIM:300934 ORPHA:370927 ORPHA:521258 OMIM:614261 OMIM:612164 OMIM:618569 OMIM:617389 OMIM:300966 ORPHA:480907 OMIM:615599 ORPHA:397951 OMIM:615918 OMIM:615663 OMIM:617695 ORPHA:496641 OMIM:617193 ORPHA:496756 OMIM:617207 OMIM:241410 OMIM:616900 ORPHA:488632 OMIM:610954 ORPHA:320385 OMIM:615031 OMIM:618213 ORPHA:1394 OMIM:213980 OMIM:617964 OMIM:617255 OMIM:618730 OMIM:614969 OMIM:619185 OMIM:619466 OMIM:618351 OMIM:617862 ORPHA:352530 OMIM:613192 OMIM:618193 OMIM:618454 OMIM:612389 ORPHA:391307 OMIM:611603 ORPHA:171680 OMIM:156610 OMIM:615763 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:600638 OMIM:618737 OMIM:221770 OMIM:617132 OMIM:244450 ORPHA:500180 OMIM:617672 OMIM:618744 OMIM:616801 ORPHA:500055 OMIM:300968 ORPHA:480880 OMIM:618760 OMIM:617802 OMIM:615917 OMIM:616683 ORPHA:466934 OMIM:619685 OMIM:618606 OMIM:615851 OMIM:616948 OMIM:616708 ORPHA:284169 ORPHA:513456 OMIM:617616 OMIM:617977 OMIM:604317 OMIM:251300 OMIM:610185 OMIM:619648 OMIM:616211 OMIM:619418 OMIM:619125 ORPHA:506358 OMIM:259050 OMIM:235730 ORPHA:261552 ORPHA:261537 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:618659 OMIM:617260 OMIM:618619 OMIM:260565 OMIM:603671

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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