Phenotype #0000321935

Individual ID	00431335
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., microcephaly; short stature; cervical hyperpigmentation, premature greying hair, acrocyanosis; moderate developmental delay; 14m-walk, instability in childhood; first words delayed, few sentences; school specialized structure; works in specialized structure; premature puberty; moderate intellectual disability; dysmorphism; no hypotonia; no spasticity/hypertonia; no movement disorder; mainly calm with rare aggressive outburst; no seizures; 2y-vesico-ureteral reflux surgery; kyphoscoliosis, genu varum; premature puberty, regressive bilateral gynecomastia; strabismus surgery at age 12
Inheritance	Familial, autosomal recessive
Age/Examination	20y11m (20 years, 11 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-09 10:08:23 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD