Phenotype #0000299042

Individual ID	00406567
Associated disease	RRS
Phenotype details	weight 2400 g (<3rd centile), height 43 cm (<3rd centile), OFC 34 cm (25th centile); flat face, hypertelorism, depressed nasal root, short nose, anteverted nares, low-set/posteriorly angulated ears, large mouth, downturned corners, gingival hyperplasia, short forearms with Madelung deformity, hypoplastic toe nails; severe micropenis, undescended testis; rib fusion; normal renal ultrasound, ECG normal
Diagnosis/Initial	Robinow syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RRS1
Age/Examination	00y00m01d (1 day)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-04-01 14:16:32 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD