ODCs

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Intellectual deficit - sparse hair - brachydactyly

1 OMIM reference -
2 associated genes
37 signs/symptoms

PROTEIN INTERACTIONS: 1

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

1 OMIM reference -
1 associated gene
5 signs/symptoms

Intellectual deficit - sparse hair - brachydactyly

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

ARID1B	(UniProt - OMIM)		PYGM	(UniProt - OMIM)
SMARCA2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ARID1B	(0.63)	PYGM

Citations in the biomedical literature:

Intellectual deficit - sparse hair - brachydactyly		Glycogen storage disease due to muscle glycogen phosphorylase deficiency
	Synonym(s): - Nicolaides-Baraitser syndrome		Synonym(s): - GSD due to muscle glycogen phosphorylase deficiency - GSD type 5 - Glycogen storage disease type 5 - Glycogenosis due to muscle glycogen phosphorylase deficiency - Glycogenosis type 5 - McArdle disease - Myophosphorylase deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C537276 / D006012

Intellectual deficit - sparse hair - brachydactyly		Glycogen storage disease due to muscle glycogen phosphorylase deficiency
	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		Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal recessive inheritance Frequent - Myopathy Occasional - Renal failure - Structural anomalies of the cardio-circulatory system