Phenotype #0000355642

Individual ID	00470746
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., no hypotonia; 12m-walk; speech contactable, 3y-delayed speech; mild intellectual disability; no autism spectrum disorder; behaviour introvert personality; no epilepsy; EEG normal; MRI mega cisterna magna; frontal prominency, microretrognathia, full lips; no ophthalmological features; freckles on her face; 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), genu valgum, bilateral pes cavus, short metatarsals; no heart defect; no genital anomalies; puberte tarda (18y-menarche); Neurological examination: Slow saccadic eye movements, titubation, bilateral dysmetria, mild hand tremor, inability to squat due to short quadriceps ligament, gluteal dimple, distal muscle weakness, hyperactive deep tendon reflexes in the lower extremity, short achilles. Short quadriceps ligament operation
Age/Examination	21y (21 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