Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated genes and diseases:
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: DHCR24
disease_id: OMIM:602398
disease_name: DESMOSTEROLOSIS
gene_symbol: ZNF335
disease_id: OMIM:615095
disease_name: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: NDUFA9
disease_id: OMIM:618247
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
gene_symbol: ARF1
disease_id: OMIM:618185
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 8
gene_symbol: PYCR2
disease_id: OMIM:616420
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 10
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
gene_symbol: BRPF1
disease_id: OMIM:617333
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
gene_symbol: KCNT2
disease_id: OMIM:617771
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57
gene_symbol: SLITRK2
disease_id: OMIM:301107
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: CHMP1A
disease_id: OMIM:614961
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 8
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: PPP3CA
disease_id: OMIM:617711
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: SPTAN1
disease_id: OMIM:613477
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5
gene_symbol: FTH1
disease_id: OMIM:620669
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
gene_symbol: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: WDR45B
disease_id: OMIM:617977
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: SRPK3
disease_id: OMIM:301134
disease_name: OMIM:301134
gene_symbol: NDUFA2
disease_id: OMIM:618235
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: CTNNA2
disease_id: OMIM:618174
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: GABRG2
disease_id: OMIM:618396
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74
gene_symbol: NDUFA6
disease_id: OMIM:618253
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
gene_symbol: IREB2
disease_id: OMIM:618451
disease_name: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: WARS1
disease_id: OMIM:620317
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
gene_symbol: TUBB2A
disease_id: OMIM:615763
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
gene_symbol: NAA80
disease_id: OMIM:620830
disease_name: OMIM:620830
gene_symbol: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: PCLO
disease_id: OMIM:608027
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 3
gene_symbol: RAB11B
disease_id: OMIM:617807
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: CLP1
disease_id: OMIM:615803
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 10
gene_symbol: KIF26A
disease_id: OMIM:620156
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11
gene_symbol: DNM1
disease_id: OMIM:620352
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY