Phenotype #0000187357

Individual ID	00248361
Associated disease	NDD
Diagnosis/Initial	severe DD/ID
Diagnosis/Definite	-
Phenotype details	severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Hypotonia; Strabismus; microcephaly; Ankyloglossia; teeth and gum abnormalities; mesomelic dysplasia lower limbs; Bowed radii, unilateral bowed ulna, shortened ulna, abnormal radial diaphysis, bowed and angulated tibias, hypoplastic fibula; Wide distal radial metaphyses, oligodactyly: 2 tarsal bones on each foot, absent/hypoplastic calcanei, 3 metatarsals, 3 associated phalanges, 1 phalanx not associated with a metatarsal bone; Scoliosis, cervical ribs, anterior superior vertebral notching, tethered cord; Coxa valga, unilateral hip dysplasia; osteopenia; horseshoe kidney; gastroesophageal reflux disease, constipation; failure to thrive; no respiratory problems
Inheritance	Isolated (sporadic)
Age/Examination	11y (11 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 15:50:09 +02:00 (CEST)

Global Variome shared LOVD