Phenotype #0000237144

Individual ID 00311895
Associated disease RRS
Phenotype details hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe
Diagnosis/Initial Robinow syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite DRS2
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2020-09-30 09:24:57 +02:00 (CEST)
Date last edited N/A

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