Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated genes and diseases:
gene_symbol: DHCR24
disease_id: OMIM:602398
disease_name: DESMOSTEROLOSIS
gene_symbol: LRRC32
disease_id: OMIM:619074
disease_name: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: GPSM2
disease_id: OMIM:604213
disease_name: CHUDLEY-MCCULLOUGH SYNDROME
gene_symbol: KIDINS220
disease_id: OMIM:617296
disease_name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
gene_symbol: WDR4
disease_id: OMIM:618346
disease_name: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: CLCN3
disease_id: OMIM:619517
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES
gene_symbol: OSTM1
disease_id: ORPHA:85179
disease_name: Infantile osteopetrosis with neuroaxonal dysplasia
gene_symbol: C2CD3
disease_id: ORPHA:434179
disease_name: Orofaciodigital syndrome type 14
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
gene_symbol: C2CD3
disease_id: OMIM:615948
disease_name: OROFACIODIGITAL SYNDROME XIV
gene_symbol: KDM5B
disease_id: OMIM:618109
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: SRPK3
disease_id: OMIM:301134
disease_name: OMIM:301134
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME
gene_symbol: MPLKIP
disease_id: OMIM:234050
disease_name: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: PLK4
disease_id: OMIM:616171
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
gene_symbol: PDHX
disease_id: OMIM:245349
disease_name: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
gene_symbol: TRAPPC12
disease_id: ORPHA:500144
disease_name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome
PEBAS
gene_symbol: CENPE
disease_id: OMIM:616051
disease_name: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: KATNB1
disease_id: OMIM:616212
disease_name: LISSENCEPHALY 6 WITH MICROCEPHALY
gene_symbol: CDK5RAP2
disease_id: OMIM:604804
disease_name: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: DDX3X
disease_id: ORPHA:3338
disease_name: Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
gene_symbol: TUBB2B
disease_id: OMIM:610031
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
gene_symbol: MDH1
disease_id: OMIM:618959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: SLC25A19
disease_id: OMIM:607196
disease_name: MICROCEPHALY, AMISH TYPE
gene_symbol: FRMD4A
disease_id: OMIM:616819
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: TUBA1A
disease_id: ORPHA:171680
disease_name: Lissencephaly due to TUBA1A mutation
gene_symbol: TNR
disease_id: OMIM:619653
disease_name: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS
gene_symbol: PLCH1
disease_id: OMIM:619895
disease_name: HOLOPROSENCEPHALY 14
gene_symbol: MAN2C1
disease_id: OMIM:619775
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION 2
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: TUBB
disease_id: OMIM:615771
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
gene_symbol: CRPPA
disease_id: OMIM:614643
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
gene_symbol: TMEM260
disease_id: OMIM:617478
disease_name: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: LONP1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: PDHA1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: L1CAM
disease_id: OMIM:304100
disease_name: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
gene_symbol: MRPS25
disease_id: OMIM:619025
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: CDC40
disease_id: OMIM:619302
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 15
gene_symbol: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM