Phenotype #0000187351

Individual ID	00248355
Associated disease	NDD
Diagnosis/Initial	severe DD/ID
Diagnosis/Definite	-
Phenotype details	severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Limb hypertonia; Myopia, strabismus; no microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Wide mouth with square upper lip; teeth and gum abnormalities; Triangular chin; synophrys, hypertrichosis; mesomelic dysplasia 4 limbs; Short ulna and radius, radial head dislocation/subluxation, styloid process of ulna on radius, carpal coalition, hypoplastic femora, short and curved tibia with metaphyseal flaring, mid tibial dimples, deviated knees, hypoplastic and gracile fibula; Carpal coalition, small feet, hypoplastic left 5th, metatarsal synostosis; Scoliosis; Bilateral coxa valga with hypoplastic ilia, hip dislocation; osteopenia; horseshoe kidney; gastroesophageal reflux disease, constipation; failure to thrive; no respiratory problems; Menstrual cycle perturbations
Inheritance	Isolated (sporadic)
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-22 16:48:52 +02:00 (CEST)
Date last edited	2021-05-09 15:34:08 +02:00 (CEST)

Global Variome shared LOVD