Phenotype #0000210930

Individual ID 00276341
Associated disease ODCD
Diagnosis/Initial osteochondrodysplasia
Diagnosis/Definite STLS
Phenotype details see paper; ..., bilateral hip dislocations, short upper limbs, normal developmental milestones, delayed speech, flat midface, short upturned nose, thin lips, mild rhizomelic shortening upper limbs with contractures right elbow, genu valgum with mild bowing femur; 2y6m severe bilateral sensorineural hearing loss
Inheritance Familial, autosomal recessive
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-01-31 10:08:04 +01:00 (CET)
Date last edited N/A

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