Phenotype #0000237099

Individual ID	00311851
Associated disease	RRS
Phenotype details	relative macrocephaly, frontal bossing, high forehead, midface hypoplasia, hypertelorism, no long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, triangular mouth, gingival hyperplasia, no absent uvula, no cleft soft palate, no dental anomalies, micrognathia; mesomelia, improved with age; brachydactyly; clinodactyly; camptodactyly; broad thumb; fetal finger/toe pads; broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies
Diagnosis/Initial	Robinow syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RRS2
Age/Examination	2y5m (2 years, 5 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-29 15:19:08 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD