Phenotype #0000187348

Individual ID	00248352
Associated disease	NDD
Diagnosis/Initial	severe DD/ID
Diagnosis/Definite	-
Phenotype details	severe developmental delay/intellectual disability; Generalized tonic-clonic seizures (onset at 5 years), nocturnal, treatment with Keppra and Micropakine; Limb hypertonia, spastic tetraparesis; normal vision, normal hearing; MRI brain enlargement of the ventricular system and peri-cerebral spaces, thin and irregular appearance of the corpus callosum; Stereotypic movements; microcephaly, plagiocephaly; Small nose, anteverted nares; normal philtrum; Wide mouth with square upper lip; Small teeth, gingival hypertrophy; Prognathism; synophrys, hypertrichosis; Hypertelorism, short neck; no mesomelic dysplasia; Bilateral elbow dislocation; Limited pronosupination, bilateral camptodactyly, edema of back-hands and -feet, bilateral simian creases, tapered fingers, dorsum pedis edema, small toes, hypoplasia of distal phalanges, ungual hypoplasia, neonatal arthrogryposis; Scoliosis; Bilateral coxa valga, dislocation of the hips; no horseshoe kidney; failure to thrive; Apnea; Bilateral cryptorchidism, bicuspid aortic valve
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 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 14:53:22 +02:00 (CEST)

Global Variome shared LOVD