ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
31 signs/symptoms

Developmental and speech delay due to SOX5 deficiency

LÃ©ri-Weill dyschondrosteosis


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

Citations in the biomedical literature:

Developmental and speech delay due to SOX5 deficiency		LÃ©ri-Weill dyschondrosteosis
	Synonym(s): (no synonyms)		Synonym(s): - LÃ©ri-Weill syndrome

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

	Classification (ICD10): (no data available)		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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537119

LÃ©ri-Weill dyschondrosteosis
	Very frequent - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Autosomal dominant inheritance - Broad nose / nasal bridge - Clinodactyly of fifth finger - Cone epiphyses / epiphysis - Depressed nasal bridge - Enlarged diaphysis / diaphyses - Epiphyseal anomaly - Exostoses - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Madelung's deformity - Mesomelic micromelia - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Patella absent / abnormal (excluding luxation) - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Wrist / carpal anomalies Frequent - Brachycephaly / flat occiput - Elbow dislocation - Genu valgum
Developmental and speech delay due to SOX5 deficiency
(no data available)