Phenotype #0000355643

Individual ID	00470747
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., no global psychomotor developmental delay; no hypotonia; 18m-walk; speech contactable; mild-moderate intellectual disability; no autism spectrum disorder; behaviour impulsive; no epilepsy; EEG mild paroxysms; MRI mega cisterna magna; frontal prominency, deep set eyes, retrognathia, full lips; no ophthalmological features; no skin lesions; small hands, tapered finger, brachydactyly, square feet, metatarsus adductus, bilateral toe 4-5. clinodactyly; disproportionate short stature, muscular build, lumbar lordosis, acromelic shortness (upper and lower limbs), short metatarsals; no heart defect; no genital anomalies; Neurological examination: Slow saccadic eye movements, titubation, torticollis, hypoactive deep tendon reflexes in the upper extremity, hand tremor, bilateral dysmetria, gluteal dimple, inability to squat due to short quadriceps ligament, distal muscle weakness, short achilles. Short quadriceps ligament operation
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-12-08 15:51:34 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD