Phenotype #0000232894

Individual ID	00307076
Associated disease	NDD
Diagnosis/Initial	neurodegeneration
Diagnosis/Definite	-
Phenotype details	birth height 53 cm (+1.65 SD), weight 3,650 g (+0.6 SD); height 157 cm (-0.04 SD), weight 45.5 kg (-0.01 SD), OFC 59 cm (+2.82 SD); developmental delay; no intellectual disability; no speech delay; anxiety, reduced stress tolerance; learning disorder; no hypotonia; no epilepsy; mitral regurgitation, mitral valve prolapse, patent foramen ovale; pes planus, scapular winging, cubitus valgus; epicanthal folds, blue eyes, hypertelorism, low- set posteriorly rotated ears, webbed/short neck; curly and thick hair, multiple lentigines; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems
Inheritance	Familial, autosomal recessive
Age/Examination	13y2m (13 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