Phenotype #0000034625

Individual ID	00047263
Associated disease	WVS
Inheritance	Isolated (sporadic)
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Accelerated osseous maturation Hypertonia in knees Hoarse, low-pitched cry Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears with hearing loss Ocular hypertelorism Downslanted palpebral fissures Long philtrum Micrognathia Patent ductus arteriosus Ventricular septal defect Prominent digit pads Single transverse palmar crease Clinodactyly, toes Talipes equinovarus Limited elbow and knee extension in early life Widened distal femurs and ulnas Excessive loose skin Hypoplastic/supernumerary nipples Increased pigmented nevi Umbilical hernia Diastasis recti Kyphosis Hypoglycemia, perinatal euroblastoma at birth, resolved
Growth	overgrowth prenatal
Hypotonia	-
Protein	-
Owner name	Ana Cohen
Database submission license	No license selected
Created by	William Gibson
Date created	2013-12-29 07:27:02 +01:00 (CET)
Date last edited	2014-11-02 21:12:07 +01:00 (CET)

Global Variome shared LOVD