Phenotype #0000034624

Individual ID	00047262
Associated disease	WVS
Inheritance	Isolated (sporadic)
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability (mild) Delayed myelination Cerebellar hypoplasia (mild) Seizures (brief absence at 15 years) Poor fine motor coordination Poor balance and gravitational insecurity Fatty filum terminale Macrocephaly Large bifrontal diameter Flat occiput Large ears Downslanted palpebral fissures Long philtrum Retrognathia Patent ductus arteriosus Prominent digit pads Thin, deep-set nails Hind foot valgus Limited elbow and knee extension in early life Limited elbow and knew extension after puberty Increased pigmented nevi Umbilical hernia Scoliosis (16 degrees)
Growth	overgrowth prenatal
Hypotonia	hypotonia
Protein	-
Owner name	Ana Cohen
Database submission license	No license selected
Created by	William Gibson
Date created	2013-12-29 07:14:40 +01:00 (CET)
Date last edited	2013-12-29 07:29:04 +01:00 (CET)

Global Variome shared LOVD