Phenotype #0000237135

Individual ID 00311888
Associated disease RRS
Phenotype details height 70%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; epicanthal folds; anteverted nares; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no bilobed tongue; dental anomalies; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; broad thumb; nail dysplasia; broad first toe; scoliosis and/or kyphosis; agenesis of the labia minora; small clitoris; hearing loss; obstructive sleep apnea; absent anterior nasal spine; increased bone density (skull)
Diagnosis/Initial Robinow syndrome
Inheritance Familial, autosomal dominant
Diagnosis/Definite DRS2
Age/Examination 20y (20 years)
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 2020-09-29 22:21:18 +02:00 (CEST)
Date last edited N/A

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