Cytoscape Web
Click node...

Intellectual deficit - sparse hair - brachydactyly
1 OMIM reference -
2 associated genes
64 connected diseases
37 signs/symptoms
Disease Type of connection
Coffin-Siris syndrome
6q25 microdeletion syndrome
Familial rhabdoid tumor
Familial multiple meningioma
Atypical teratoid tumor
Neurofibromatosis type 3
Synovial sarcoma
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant secondary polycythemia
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Translocation renal cell carcinoma
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Retinitis pigmentosa
Glucocorticoid resistance
Acute basophilic leukemia
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
Tyrosinemia type 2
Young adult-onset Parkinsonism
Estrogen resistance syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Anophthalmia / microphthalmia - esophageal atresia
Autosomal recessive primary microcephaly
Chronic mucocutaneous candidiasis
Colobomatous microphthalmia
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Heritable pulmonary arterial hypertension
Isolated anophthalmia - microphthalmia
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Nestor-Guillermo progeria syndrome
Papillary or follicular thyroid carcinoma
Premature chromosome condensation with microcephaly and intellectual deficit
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Septo-optic dysplasia
Spinocerebellar ataxia type 17
Susceptibility to viral and mycobacterial infections
X-linked dystonia-parkinsonism
Brachydactyly - elbow wrist dysplasia
Burkitt lymphoma
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Anaplastic ependymoma
Dehydratase deficiency
Uveal coloboma - cleft lip and palate - intellectual deficit
- Nicolaides-Baraitser syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
ARID1B Q8NFD5614556
SMARCA2 P51531600014
Very frequent
- Anteverted nares / nostrils
- Everted lower lip
- Flared / thick ala nasi
- High vaulted / narrow palate
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Joint / articular deformation
- Long philtrum
- Macrostomia / big mouth
- Microcephaly
- Philtrum flat / large / featureless / absent cupidon bows
- Short hand / brachydactyly
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / retracted lips
- Triangular face

- Abnormal implantation of hair
- Abnormally placed nipples
- Blepharophimosis / short palpebral fissures
- Eczema
- High arched eyebrows
- Long / thick / curved lashes / trichomegaly / polytrichia
- Metacarpal anomalies / Archibald's sign
- Narrow nasal bridge
- Rippled skin
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Terminal broadening / clubbing of toes
- Terminal / third phalangeal bone of fingers broadened / deviated
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wide space between 1st-2nd toes

- Advanced bone age
- Congenital cardiac anomaly / malformation / cardiopathy
- Delayed bone age
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epiphyseal anomaly
- Herniae