Genes associated with “macrocephaly”
How are genes scored? (0–100 composite)
Strong Candidates
16 genesintellectual developmental disorder, autosomal dominant 63, with macrocephaly
Sifrim-Hitz-Weiss syndrome
WD repeat and FYVE domain containing 3
nuclear factor I A
mucopolysaccharidosis type 7
Consider
61 genesmacrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
nuclear factor I B
Sotos syndrome
achondroplasia
Canavan disease
acrocallosal syndrome
megalencephaly-capillary malformation-polymicrogyria syndrome
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
megalencephalic leukoencephalopathy with subcortical cysts 2A
craniosynostosis 4
d-bifunctional protein deficiency
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY; IDDAM
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63
Tatton-Brown-Rahman overgrowth syndrome
Shashi-Pena syndrome
X-linked intellectual disability with marfanoid habitus
modulator of VRAC current 1
Noonan syndrome 5
progeroid and marfanoid aspect-lipodystrophy syndrome
campomelic dysplasia
LEOPARD syndrome 1
Cohen-Gibson syndrome
Phelan-McDermid syndrome
Toriello-Lacassie-Droste syndrome
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
syntaxin binding protein 1
ribosomal protein S6 kinase A3
SATB homeobox 2
O'Donnell-Luria-Rodan syndrome
calcium voltage-gated channel subunit alpha1 E
Simpson-Golabi-Behmel syndrome type 2
macrocephaly/megalencephaly syndrome, autosomal recessive
Noonan syndrome 4
LEOPARD syndrome 3
autosomal recessive osteopetrosis 1
neurodevelopmental disorder with alopecia and brain abnormalities
Silver-Russell syndrome 3
Myhre syndrome
cathepsin K
Keipert syndrome
seizures-scoliosis-macrocephaly syndrome
developmental delay with or without intellectual impairment or behavioral abnormalities
Costello syndrome
ATP binding cassette subfamily C member 9
ribosomal protein L5
Possible
113 genes — click to expand
CTR9 component of Paf1/RNA polymerase II complex
Noonan syndrome-like disorder with loose anagen hair 1
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
Noonan syndrome-like disorder with loose anagen hair 2
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
X-linked intellectual disability-cerebellar hypoplasia syndrome
mitogen-activated protein kinase 1
autosomal dominant Robinow syndrome 2
intellectual developmental disorder with macrocephaly, seizures, and speech delay
ATP binding cassette subfamily C member 8
tRNA isopentenyltransferase 1
Aarskog-Scott syndrome, X-linked
peroxisome biogenesis disorder 1A (Zellweger)
mitochondrially encoded cytochrome b
developmental and epileptic encephalopathy 111
Sandhoff disease
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
intellectual disability, autosomal dominant 52
ZTTK syndrome
desmosterolosis
polyhydramnios, megalencephaly, and symptomatic epilepsy
opsismodysplasia
intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
neurexin 3
Chopra-Amiel-Gordon syndrome
Joubert syndrome 2
syndromic X-linked intellectual disability 14
band heterotopia of brain
Alexander disease
syndromic X-linked intellectual disability Lubs type
intellectual disability, autosomal dominant 42
eukaryotic translation elongation factor 2
Greenberg dysplasia
hypoplasminogenemia
leukoencephalopathy with vanishing white matter 1
brain abnormalities, neurodegeneration, and dysosteosclerosis
coiled-coil domain containing 186
divergent protein kinase domain 1A
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
platyspondylic dysplasia, Torrance type
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH
intellectual developmental disorder, autosomal dominant 70
epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
glycogen synthase kinase 3 alpha
RAB5 interacting factor
zinc finger protein 526
bent bone dysplasia syndrome 2
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
developmental and epileptic encephalopathy, 36
giant axonal neuropathy 1
neurodevelopmental disorder with hypotonia, seizures, and absent language
Bardet-Biedl syndrome 22
RIN2 syndrome
Ritscher-Schinzel syndrome 2
deafness-encephaloneuropathy-obesity-valvulopathy syndrome
intellectual developmental disorder, X-linked, syndromic 37
cardiac, facial, and digital anomalies with developmental delay
congenital disorder of glycosylation, type Iw, autosomal dominant
syndromic X-linked intellectual disability 94
mitochondrial complex I deficiency, nuclear type 4
intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
autosomal dominant Robinow syndrome 1
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Niemann-Pick disease type A
BICD cargo adaptor 2
polypeptide N-acetylgalactosaminyltransferase 8
potassium voltage-gated channel subfamily A member 6
developmental delay with variable intellectual disability and dysmorphic facies
B4GALT1-congenital disorder of glycosylation
Meester-Loeys syndrome
Imagawa-Matsumoto syndrome
intellectual disability, autosomal dominant 53
family with sequence similarity 177 member A1
autosomal dominant Robinow syndrome 3
mitochondrial complex I deficiency, nuclear type 18
syndromic X-linked intellectual disability Nascimento type
intellectual disability, X-linked 99
intellectual developmental disorder, autosomal recessive 74
Noonan syndrome 11
developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
parietal foramina 1
developmental and epileptic encephalopathy 89
Coffin-Siris syndrome 12
neurodevelopmental disorder with speech impairment and dysmorphic facies
craniometadiaphyseal osteosclerosis with hip dysplasia
congenital disorder of deglycosylation 2
intellectual developmental disorder 59
acroosteolysis-keloid-like lesions-premature aging syndrome
Cole-Carpenter syndrome 2
Bardet-Biedl syndrome 1
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
D-2-hydroxyglutaric aciduria 1
Adams-Oliver syndrome 2
short-rib thoracic dysplasia 8 with or without polydactyly
multiple acyl-CoA dehydrogenase deficiency
autosomal dominant Kenny-Caffey syndrome
intellectual disability, X-linked syndromic, Turner type
sclerosteosis 2
alpha-mannosidosis
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 3
D,L-2-hydroxyglutaric aciduria
congenital hypothalamic hamartoma syndrome
autosomal recessive spinocerebellar ataxia 20
intellectual developmental disorder with cardiac defects and dysmorphic facies
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.