Phenotype #0000332801

Individual ID	00443465
Associated disease	NDD
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	JABELS
Phenotype details	ee paper; ..., intellectual disability (IQ43-50); 1y-sit, 2y-walk, 3y-speech; no scoliosis, no kyphoscoliosis; no pectus carinatum; no seizures; wide-based gait, wide-based stance; abnormal finger to nose test; thin sparse brittle hair; normal sensory action potentials; normal compound motor action potentials; neurogenic pattern on needle examination; MRI brain cerebellar vermain atrophy; susceptibility-weighted imaging hypointensity in globus pallidus and substantia nigra; tremor hands, tremor jaws; abnormal hand posturing; normal muscle tone; normal muscle strength; absence of ankle jerks; abnormal plantar reflexes; no myopia; no early onset cataract; anomalies retina; normal muscle enzyme levels; normal thyroid hormone levels; normal electrolyte levels; normal liver and/or kidney function tests
Inheritance	Familial, autosomal recessive
Age/Examination	34y (34 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-27 15:59:33 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD