Phenotype #0000304350

Individual ID	00412345
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	last assessment early childhood; height +1.65 SD; no microcephaly; no short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; etit mal seizures during early childhood:,1-2 per week responsive to medication,,later in early childhood:severe intractable generalized seizures; axial hypotonia diagnosed during infancy; peripheral hypertonia/spasticity at late infancy/early childhood; joint stiffness, difficult to evaluate in setting of chorea with spasticity; chorea with spasticity and motor stereotypies; cortical visual impairment, nystagmus (resolved during early childhood), lagophthalmos (intermittent); normal hearing; anterior hairline, prominent forehead, hyptonic triangular face, deep set eyes, prominent nasal curve, poorly formed philtrum, wide palate, wide spaced teeth, prominent ears, deep creases of palms amd soles, prominent fetal fat pads, yellowish hyperpigmentation of lower thoracic spine, brachycephaly; GERD diagnosed in early childhood, constipation, G-tube; autism spectrum disorder, self-stimulatory behavior (head shaking, rocking, hand flapping); no failure to thrive; sleeping difficulties; no skeletal abnormalities; severe sensory processing disorder, dysautonomia; MRI brain normal; Abnormal during early childhood; no cardiac abnormalities
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-27 19:18:04 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

RAB10 (RAB10, member RAS oncogene family)

Phenotype #0000304350