Genes associated with “microcephaly”
How are genes scored? (0–100 composite)
Strong Candidates
54 genescentrosomal protein 152
kinesin family member 11
tubulin gamma complex component 6
assembly factor for spindle microtubules
Cornelia de Lange syndrome 1
polynucleotide kinase 3'-phosphatase
nudE neurodevelopment protein 1
WD repeat domain 62
microcephalin 1
DYRK1A-related intellectual disability syndrome
CDK5 regulatory subunit associated protein 2
STIL centriolar assembly protein
microcephaly 4, primary, autosomal recessive
Lowry-Wood syndrome
Angelman syndrome
lamin B1
pericentrin
neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
microcephaly 16, primary, autosomal recessive
microcephaly 14, primary, autosomal recessive
Christianson syndrome
syndromic X-linked intellectual disability Lubs type
kinesin family member 14
alpha thalassemia-X-linked intellectual disability syndrome
Fanconi anemia complementation group G
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Cornelia de Lange syndrome 5
Fanconi anemia complementation group P
xeroderma pigmentosum group F
microcephaly 30, primary, autosomal recessive
solute carrier family 25 member 19
zinc finger protein 335
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
rotatin
ATPase Na+/K+ transporting subunit alpha 2
Consider
100 genesKabuki syndrome 1
tubulin gamma complex component 4
cyclin dependent kinase 6
MFSD2 lysolipid transporter A, lysophospholipid
centrosomal protein 135
lamin B2
intellectual disability, autosomal dominant 15
non-SMC condensin II complex subunit D3
MORC family CW-type zinc finger 2
non-SMC condensin I complex subunit D2
SMG8 nonsense mediated mRNA decay factor
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
developmental and epileptic encephalopathy, 27
glutamate pyruvate transaminase 2 deficiency
WD repeat domain 11
ARF GTPase 3
angiopoietin 2
osteoporosis, childhood- or juvenile-onset, with developmental delay
polyhomeotic homolog 1
growth delay due to insulin-like growth factor I resistance
transportin 2
Coffin-Lowry syndrome
cerebrooculofacioskeletal syndrome 2
polo like kinase 4
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT; MCLMR
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
intellectual disability, X-linked, syndromic, 35
minichromosome maintenance complex component 7
microcephaly 25, primary, autosomal recessive
dystonia 28, childhood-onset
pontocerebellar hypoplasia type 6
dyskeratosis congenita, autosomal recessive 6
TATA-box binding protein associated factor 13
developmental and epileptic encephalopathy, 83
Baraitser-winter syndrome 2
autosomal recessive cutis laxa type 2A
microphthalmia, syndromic 2
non-SMC condensin I complex subunit H
focal dermal hypoplasia
neurodevelopmental disorder with microcephaly, short stature, and speech delay
hereditary spastic paraplegia 47
infantile cerebellar-retinal degeneration
mitochondrial DNA depletion syndrome 13
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Meckel syndrome, type 8
microcephaly 28, primary, autosomal recessive
Meier-Gorlin syndrome 7
CK syndrome
Houge-Janssens syndrome 3
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Seckel syndrome 8
trichothiodystrophy 6, nonphotosensitive
cytoplasmic linker associated protein 1
neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
Meier-Gorlin syndrome 6
Possible
174 genes — click to expand
ataxia-telangiectasia-like disorder 2
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
congenital disorder of glycosylation, type IAA
Galloway-Mowat syndrome 8
lysine acetyltransferase 5
COG6-congenital disorder of glycosylation
leukocyte adhesion deficiency type II
neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
neurodevelopmental disorder with poor growth and behavioral abnormalities
neuromuscular disorder, congenital, with dysmorphic facies
microcephaly 13, primary, autosomal recessive
hypotonia, ataxia, and delayed development syndrome
neurodevelopmental disorder with or without early-onset generalized epilepsy
leukodystrophy, hypomyelinating, 14
Aarskog-Scott syndrome, X-linked
developmental and epileptic encephalopathy, 5
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
developmental and epileptic encephalopathy, 47
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
autosomal recessive limb-girdle muscular dystrophy type R18
Koolen-de Vries syndrome
hyperphosphatasia with intellectual disability syndrome 4
SSR4-congenital disorder of glycosylation
branched-chain keto acid dehydrogenase kinase deficiency
neurodegeneration with brain iron accumulation 9
holoprosencephaly 12 with or without pancreatic agenesis
seizures-scoliosis-macrocephaly syndrome
MICROCEPHALY, AMISH TYPE; MCPHA
Phelan-McDermid syndrome
very long chain acyl-CoA dehydrogenase deficiency
ALG12-congenital disorder of glycosylation
neurodevelopmental disorder with impaired language and ataxia and with or without seizures
mitochondrial complex 2 deficiency, nuclear type 3
structural brain anomalies with impaired intellectual development and craniosynostosis
multiple congenital anomalies-neurodevelopmental syndrome, X-linked
Galloway-Mowat syndrome 5
hypomagnesemia, seizures, and intellectual disability 1
Kohlschutter-Tonz syndrome-like
intellectual disability, autosomal recessive 57
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
developmental and epileptic encephalopathy, 46
intellectual developmental disorder with autistic features and language delay, with or without seizures
mucopolysaccharidosis-plus syndrome
Seckel syndrome 10
leukodystrophy and acquired microcephaly with or without dystonia;
intellectual developmental disorder, X-linked 112
generalized epilepsy with febrile seizures plus, type 10
Aicardi-Goutieres syndrome 7
Hermansky-Pudlak syndrome 10
Mullegama-Klein-Martinez syndrome
Beck-Fahrner syndrome
Jeffries-Lakhani neurodevelopmental syndrome
hypomyelinating leukodystrophy 10
TMEM165-congenital disorder of glycosylation
neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
developmental and epileptic encephalopathy, 76
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
renal tubular dysgenesis of genetic origin
ALG1-congenital disorder of glycosylation
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
methemoglobinemia due to deficiency of methemoglobin reductase
mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
neurodevelopmental disorder with severe motor impairment and absent language
pyruvate dehydrogenase E3 deficiency
Potocki-Lupski syndrome
neurodevelopmental disorder with involuntary movements
Goldberg-Shprintzen syndrome
Ogden syndrome
mitochondrial complex I deficiency, nuclear type 5
mitochondrial complex I deficiency, nuclear type 7
dihydropteridine reductase deficiency
Bailey-Bloch congenital myopathy
hypomyelinating leukodystrophy 6
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.