Genes associated with “hypertrichosis”
How are genes scored? (0–100 composite)
Strong Candidates
15 geneshypertrichotic osteochondrodysplasia Cantu type
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
twist family bHLH transcription factor 2
Cornelia de Lange syndrome 6
familial porphyria cutanea tarda
Consider
40 genesintellectual disability, autosomal dominant 15
Rubinstein-Taybi syndrome due to CREBBP mutations
Shashi-Pena syndrome
Marshall-Smith syndrome
Smith-Magenis syndrome
gingival fibromatosis-hypertrichosis syndrome
Waardenburg syndrome type 3
Warburg micro syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Kleefstra syndrome 1
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME; FHEIG
?Hypertrichosis universalis congenita, Ambras type
Hypertrichosis, congenital generalized
Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
cutaneous porphyria
Fontaine progeroid syndrome
Bloom syndrome
sialuria
mucopolysaccharidosis type 3B
acroosteolysis dominant type
intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
potassium inwardly rectifying channel subfamily J member 11
glycoprotein Ib platelet subunit alpha
glycoprotein IX platelet
SRY-box transcription factor 3
intellectual developmental disorder with cardiac defects and dysmorphic facies
Waardenburg syndrome type 2A
KBG syndrome
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
mitochondrial complex I deficiency, nuclear type 23
Possible
104 genes — click to expand
intellectual disability, X-linked 99, syndromic, female-restricted
syndromic X-linked intellectual disability Nascimento type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Snyder type
intellectual disability, X-linked 21
Okur-Chung neurodevelopmental syndrome
neuroocular syndrome 1
mucopolysaccharidosis type 3D
GM1 gangliosidosis type 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
mucopolysaccharidosis type 3C
intellectual disability, autosomal dominant 52
Simpson-Golabi-Behmel syndrome type 1
KINSSHIP syndrome
intellectual disability, autosomal dominant 29
ornithine transcarbamylase
intellectual disability, autosomal dominant 48
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
congenital disorder of glycosylation, type IAA
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
spondyloepimetaphyseal dysplasia, Genevieve type
Gillessen-Kaesbach-Nishimura syndrome
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
intellectual disability, autosomal dominant 30
hypotonia, ataxia, and delayed development syndrome
desmoglein 4
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
corpus callosum agenesis-abnormal genitalia syndrome
COFFIN-SIRIS SYNDROME 1; CSS1
mucopolysaccharidosis type 2
TRICHOMEGALY; TCMGLY
ZIMMERMANN-LABAND SYNDROME 3; ZLS3
Elsahy-Waters syndrome
developmental and epileptic encephalopathy, 66
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
autosomal recessive spinocerebellar ataxia 17
auriculocondylar syndrome 2B
Kury-Isidor syndrome
focal segmental glomerulosclerosis and neurodevelopmental syndrome
intellectual developmental disorder, X-linked, syndromic 37
Hengel-Maroofian-Schols syndrome
Zimmermann-Laband syndrome 2
forkhead box N1
mitochondrial DNA depletion syndrome 13
Noonan syndrome 13
apoptosis inducing factor mitochondria associated 1
fatty acid 2-hydroxylase
rhomboid 5 homolog 2
transmembrane serine protease 6
neurodevelopmental disorder with microcephaly and dysmorphic facies
mucopolysaccharidosis-plus syndrome
COG7-congenital disorder of glycosylation
neurodevelopmental disorder with severe motor impairment and absent language
intellectual disability-sparse hair-brachydactyly syndrome
inositol 1,4,5-trisphosphate receptor type 3
arterial tortuosity-bone fragility syndrome
Liang-Wang syndrome
congenital myopathy 22A, classic
cerebellar, ocular, craniofacial, and genital syndrome
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
cortical dysplasia-focal epilepsy syndrome
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
developmental delay with variable intellectual disability and dysmorphic facies
trichohepatoneurodevelopmental syndrome
microcephaly 4, primary, autosomal recessive
Alazami-Yuan syndrome
Suleiman-El-Hattab syndrome
transcriptional repressor GATA binding 1
GLI family zinc finger 2
holoprosencephaly 5
fibroblast growth factor 5
intellectual disability, autosomal recessive 45
neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Peters plus syndrome
Zimmermann-Laband syndrome 1
Goldberg-Shprintzen syndrome
alpha-mannosidosis
intellectual developmental disorder 61
intellectual disability, autosomal recessive 5
mucopolysaccharidosis type 3A
arhinia, choanal atresia, and microphthalmia
SRD5A3-congenital disorder of glycosylation
intellectual disability, autosomal dominant 57
DeSanto-Shinawi syndrome due to WAC point mutation
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.