Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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

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