Phenotype #0000333238

Individual ID	00443983
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., no prenatal anomalies; hypertelorism; upward palpebral fissures (slant); prominent nasal bridge; normal mouth, normal oral cavity; protruding small ears; thin hair; flat forehead, arched eyebrows, broad chin; motor delay; 9m-turning over; 16m-sit; 4y-walk; speech delay; 3y-first words (few double syllable words); not yet toilet trained; severe intellectual disability (IQ35); present (CARS: 38); stereotypy, hyperactivity; sleep-wake cycle disturbance; 3y-apneic spells with tonic seizures,controlled on oxcarbazepine; EEG left parietal epileptigenic discharges; hypotonia; cerebral imaging hypoplasia of corpus callosum, prominent cortical sulci; feeding difficulties; no hearing loss; infrequent strabismus; mitral regurgitation, small patent ductus arteriosu
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-09 16:29:47 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD