Phenotype #0000187352

Individual ID	00248356
Associated disease	NDD
Diagnosis/Initial	severe DD/ID
Diagnosis/Definite	-
Phenotype details	severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Hypotonia; Strabismus; MRI brain cerebral atrophy with possible brainstem hypoplasia; microcephaly; Small nasal tip; normal philtrum; Wide mouth with square upper lip; Small, widely spaced teeth; normal chin; synophrys, hypertrichosis; mesomelic dysplasia 4 limbs; Short and thick ulna, slightly shortened radius with convex distal end bilaterally, dislocation of right radial head, short and curved tibia, extremely short rectangular fibula; Talus ossified in hindfoot, one ossified bone in midfoot (cuneiform), missing one lateral ray in left foot, 4th-5th right metatarsal synostosis; Bilateral cervical ribs; Coxa valga; no osteopenia; horseshoe kidney; Constipation, swallowing difficulties, percutaneous endoscopic gastrostomy; failure to thrive; Nightly desaturations treated with CPAP from 3 years of age
Inheritance	Isolated (sporadic)
Age/Examination	05y (5 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 15:36:02 +02:00 (CEST)

Global Variome shared LOVD