Phenotype #0000034622

Individual ID	00047260
Associated disease	WVS
Inheritance	Isolated (sporadic)
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Accelerated osseous maturation Hypertonia Hoarse, low-pitched cry Intellectual disability (Mild) Excessive appetite Ventriculomegaly Seizures (Tonic-Clonic) Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Retrognathia Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Talipes equinovarus Short fourth metatarsals Limited elbow and knee extension Widened distal femurs and ulnas Excessive loose skin Inverted nipples Thin hair Umbilical hernia Inguinal hernia Scoliosis (degrees) Hypothyroidism Growth hormone deficiency
Growth	overgrowth prenatal
Hypotonia	-
Protein	-
Owner name	William Gibson
Database submission license	No license selected
Created by	William Gibson
Date created	2013-05-08 02:18:22 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD