Phenotype #0000237127

Individual ID	00311878
Associated disease	DRS
Phenotype details	see paper; ..., short stature, mesomelic limb shortening, brachydactyly, large anterior fontanel, hypertelorism, prominent eyes, bilateral epicanthic folds, wide down‐slanting palpebral fissures, flat midface, short upturned nose, broad nasal bridge, anteverted nares, long philtrum, gingival hyperplasia, short oral frenulum, posteriorly rotated ears, micrognathia., genital hypoplasia, sacral dimple, hairy sacral patch; radiography short long bones
Diagnosis/Initial	Robinow syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	DRS1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen