Phenotype #0000230542

Individual ID	00303462
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDAHM
Phenotype details	moderate/severe intellectual disability; speech few words; normal behaviour; height 141.3 cm aged 45 years (<0.4th); OFC 45y 56.0 cm (50th-75th) ; no spasticity, walks only with the use of a walking frame, but lower limb tone and reflexes are normal; delayed gross motor development, walk-7y; 13y-14y seizures; coarse facial features; short 3rd, 4th and 5th metacarpals, wasting of the intrinsic muscles of hands with clawing of the fingers; bicuspid aortic valve
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-12 19:05:40 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD