Phenotype #0000187358

Individual ID	00248362
Associated disease	NDD
Diagnosis/Initial	severe DD/ID
Diagnosis/Definite	-
Phenotype details	severe developmental delay/intellectual disability; Myoclonic jerks, convulsions; MRI brain atrophy, ventriculomegaly; dolicocephaly, no microcephaly; Short palpebral fissures, low set ears, short neck; mesomelic dysplasia 4 limbs; arms and legs radial head dislocation/subluxation, slightly short radius and ulna, short and dysplastic triangular tibias, fibular agenesis; Small equinovalgus feet, oligodactyly: 4 toes on 1 foot, 5 on the other, abnormally spaced; Sacral sinus; horseshoe kidney; Colon malrotation; failure to thrive; Recurrent apnea, 4m-respiratory arrest leading to death
Inheritance	Isolated (sporadic)
Age/Examination	00y04m (4 months)
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 16:01:48 +02:00 (CEST)

Global Variome shared LOVD