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12p12.1 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Langer mesomelic dysplasia

1 OMIM reference -
1 associated gene
13 signs/symptoms

12p12.1 microdeletion syndrome

Langer mesomelic dysplasia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX5	(0.72)	SHOX

Citations in the biomedical literature:

12p12.1 microdeletion syndrome		Langer mesomelic dysplasia
	Synonym(s): - Del(12)(p12.1) - Monosomy 12p12.1		Synonym(s): - Mesomelic dwarfism, Langer type

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537267

Langer mesomelic dysplasia
	Very frequent - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - High vaulted / narrow palate - Madelung's deformity - Mesomelic micromelia - Rhizomelic micromelia - Short stature / dwarfism / nanism - Ulnar deviation of fingers - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Wrist / carpal anomalies Occasional - Hypoplastic mandibula / partial absence of the mandibula
12p12.1 microdeletion syndrome
(no data available)