Phenotype #0000232898

Individual ID	00307080
Associated disease	NDD
Diagnosis/Initial	neurodegeneration
Diagnosis/Definite	-
Phenotype details	birth height 50.8 cm (+0.48 SD), weight 3,657 g (+0.62 SD); height 89 cm (-2.21 SD), weight 12.8 kg (-1.13 SD), OFC 48.5 cm (-1.34 SD); developmental delay; intellectual disability; speech delay, apraxia; very active, destructive, affectionate, autistic spectrum disorder; learning disorder; no hypotonia; 4m-epilepsy, infantile spasms, controlled with vigabatrin; atrial septal defect; tapered fingers, with broad bast at MP joints tapering to the distal phalanges, scapular winging; hypertelorism, ptosis, wide mouth, full lips, small lower incisors, widely spaced teeth, webbed/short neck; dry skin; no cryptorchidism; history of aspiration; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; 4m-normal MRI/CT; duplicated collecting system right kidney
Inheritance	Familial, autosomal recessive
Age/Examination	3y2m (3 years, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-30 09:03:17 +02:00 (CEST)
Date last edited	2025-12-02 13:47:03 +01:00 (CET)

Global Variome shared LOVD