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1 OMIM reference -
2 associated genes
37 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Intellectual deficit - sparse hair - brachydactyly
Burkitt lymphoma

ARID1B MYC
SMARCA2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMARCA2
(0.56)
MYC



Citations in the biomedical literature:


Intellectual deficit - sparse hair - brachydactyly
ARID1B SMARCA2
Burkitt lymphoma
MYC



Intellectual deficit - sparse hair - brachydactyly
Burkitt lymphoma

Synonym(s):
- Nicolaides-Baraitser syndrome

Synonym(s):
- Small non-cleaved cell lymphoma

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: D002051 / D008228

Intellectual deficit - sparse hair - brachydactyly

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

Frequent
- 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

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


Burkitt lymphoma

(no data available)