Phenotype: Primary microcephaly (HP:0011451)
Associated genes and diseases:
gene_symbol: BUB1
disease_id: OMIM:620183
disease_name: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: CIT
disease_id: OMIM:617090
disease_name: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: VPS4A
disease_id: OMIM:619273
disease_name: CIMDAG SYNDROME
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: COG7
disease_id: ORPHA:79333
disease_name: COG7-CDG
CDG syndrome type IIe
CDG-IIe
CDG2E
Carbohydrate deficient glycoprotein syndrome type IIe
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type IIe
gene_symbol: IARS1
disease_id: OMIM:617093
disease_name: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
gene_symbol: CDK6
disease_id: OMIM:616080
disease_name: MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: ANKLE2
disease_id: OMIM:616681
disease_name: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: COASY
disease_id: OMIM:618266
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
gene_symbol: CTNNB1
disease_id: OMIM:615075
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
gene_symbol: CTNNB1
disease_id: ORPHA:404473
disease_name: Severe intellectual disability-progressive spastic diplegia syndrome
CTNNB1 syndrome
gene_symbol: GRIN2A
disease_id: OMIM:245570
disease_name: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
gene_symbol: GRIN2A
disease_id: ORPHA:289266
disease_name: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
gene_symbol: TP53RK
disease_id: OMIM:617730
disease_name: GALLOWAY-MOWAT SYNDROME 4
gene_symbol: LAGE3
disease_id: OMIM:301006
disease_name: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
gene_symbol: SASS6
disease_id: OMIM:616402
disease_name: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: DYRK1A
disease_id: OMIM:614104
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
gene_symbol: TPRKB
disease_id: OMIM:617731
disease_name: GALLOWAY-MOWAT SYNDROME 5
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
gene_symbol: NDE1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: NDE1
disease_id: OMIM:614019
disease_name: LISSENCEPHALY 4
gene_symbol: FZR1
disease_id: OMIM:620145
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109
gene_symbol: PPFIBP1
disease_id: OMIM:620024
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
gene_symbol: SPOP
disease_id: OMIM:618828
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 1
gene_symbol: CLPB
disease_id: ORPHA:445038
disease_name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
MGA7
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: RBBP8
disease_id: OMIM:606744
disease_name: SECKEL SYNDROME 2
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
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: IER3IP1
disease_id: OMIM:614231
disease_name: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
gene_symbol: NCAPD2
disease_id: OMIM:617983
disease_name: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: RELN
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: KATNB1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: CDK5RAP2
disease_id: OMIM:604804
disease_name: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: TXN2
disease_id: ORPHA:478029
disease_name: Combined oxidative phosphorylation defect type 29
COXPD29
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: TRAPPC14
disease_id: OMIM:618351
disease_name: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: PHGDH
disease_id: OMIM:601815
disease_name: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
gene_symbol: PHGDH
disease_id: ORPHA:79351
disease_name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH deficiency, infantile/juvenile form
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
gene_symbol: DTYMK
disease_id: OMIM:619847
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
gene_symbol: CEP135
disease_id: OMIM:614673
disease_name: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: EOMES
disease_id: ORPHA:171703
disease_name: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: TRMT10A
disease_id: OMIM:616033
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: KNL1
disease_id: OMIM:604321
disease_name: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: YRDC
disease_id: OMIM:619609
disease_name: GALLOWAY-MOWAT SYNDROME 10
gene_symbol: SLC25A19
disease_id: OMIM:607196
disease_name: MICROCEPHALY, AMISH TYPE
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: MECP2
disease_id: ORPHA:778
disease_name: Rett syndrome
gene_symbol: FRMD4A
disease_id: OMIM:616819
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
gene_symbol: FRMD4A
disease_id: ORPHA:466688
disease_name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: ZNF335
disease_id: OMIM:615095
disease_name: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: TUBB
disease_id: OMIM:615771
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
gene_symbol: AFG2A
disease_id: ORPHA:457351
disease_name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: CEP295
disease_id: OMIM:620767
disease_name: SECKEL SYNDROME 11
gene_symbol: PCDH12
disease_id: OMIM:251280
disease_name: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1
gene_symbol: PDCD6IP
disease_id: OMIM:620047
disease_name: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: CEP63
disease_id: OMIM:614728
disease_name: SECKEL SYNDROME 6
gene_symbol: STIL
disease_id: OMIM:612703
disease_name: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: SLC1A4
disease_id: ORPHA:447997
disease_name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ASCT1 deficiency
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
gene_symbol: MCPH1
disease_id: OMIM:251200
disease_name: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: SLC25A12
disease_id: OMIM:612949
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
gene_symbol: RNF2
disease_id: OMIM:619460
disease_name: LUO-SCHOCH-YAMAMOTO SYNDROME
gene_symbol: TSEN54
disease_id: ORPHA:166063
disease_name: Pontocerebellar hypoplasia type 4
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia
PCH4
gene_symbol: PSAT1
disease_id: ORPHA:284417
disease_name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
PSAT deficiency, infantile/juvenile form
gene_symbol: LMNB2
disease_id: OMIM:619180
disease_name: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: NUP37
disease_id: OMIM:618179
disease_name: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: NSF
disease_id: OMIM:619340
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96
gene_symbol: ARHGEF2
disease_id: OMIM:617523
disease_name: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome