Phenotype #0000230543

Individual ID	00303463
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDAHM
Phenotype details	moderate/severe intellectual disability; speech little expressive language (few words - 3 word sentences); normal behaviour; height 39y 158.4 cm (0.4th); OFC 39y 55.5 cm (9th-25th); spastic paraparesis with brisk lower limb reflexes and extensor plantar responses; several operations to release contractures at his hips and ankles; delayed gross motor development, walk-5y; seizures as an infant. seizures when young, resolved as teenager; coarse facial features; short thumbs, marked muscle wasting of the small muscles of hands with clawing of his fingers; mirror movements; hypothyroidism
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