Phenotype #0000333237

Individual ID	00443982
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., no prenatal anomalies; no hypertelorism; normal palpebral fissures (slant); normal nasal bridge; normal mouth, normal oral cavity; normal ears; normal hair; no skeletal anomalies; motor delay; >2, walk, ataxic gait, frequent falling; speech delay; 3y-first words (<10 meaningful words); no autistic features; no behavioral anomalies; no clinical seizures; EEG normal; hypotonia; cerebral imaging normal; no feeding difficulties; bilateral conductive hearing loss to mid and high frequencies
Inheritance	Familial, autosomal recessive
Age/Examination	3y (3 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