Phenotype #0000295651

Individual ID	00402900
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	no perinatal findings; coarse facies, bushy eyebrows, elongated face, hypertelorism, upslanting palpebral fissures, flat nasal bridge, small nose, micrognathia; severe intellectual disability, autism spectrum disorder; irritability, self-injurious behavior; weight -2.32 SD, height -2.75 SD; microcephaly (OFC -3.09 SD); hypertonia of all extremities, decreased muscle bulk, ataxia, abnormal EEG w/o apparent seizures; MRI brain bilateral periventricular leukomalacia, partially empty sella, subependymal nodular gray matter heterotopia, bil hypo-/delayed myelination, hypoplastic pituitary gland; bilateral retinal detachment, cataract; severe scoliosis, left acetabulum dysplasia, bil hip dysplasia, bilateral coxa valga, pes planus; bilateral cryptorchidism, two large hypopigmented macules
Inheritance	Familial, autosomal recessive
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-14 10:40:27 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD