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Brachydactyly - elbow wrist dysplasia

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Brachydactyly - elbow wrist dysplasia

ALG13-CDG

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PITX1	(0.63)	ALG13

Citations in the biomedical literature:

Brachydactyly - elbow wrist dysplasia		ALG13-CDG
	Synonym(s): - Brachydactyly - joint dysplasia - Liebenberg syndrome		Synonym(s): - CDG syndrome type Is - CDG-Is - CDG1S - Congenital disorder of glycosylation type 1s - Congenital disorder of glycosylation type Is

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Brachydactyly - elbow wrist dysplasia
	Very frequent - Autosomal dominant inheritance - Carpal bones fusion / synostosis - Clinodactyly of fifth finger - Elbow dislocation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Macrocephaly / macrocrania / megalocephaly / megacephaly - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Terminal / third phalangeal bone of fingers broadened / deviated - Thin / hypoplastic / hyperconvex fingernails - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
ALG13-CDG
(no data available)