Phenotype #0000199675

Individual ID	00261169
Associated disease	DD
Phenotype details	developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); attention deficit hyperactivity disorder (HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); ataxia (HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); severe with compression of the overlying cortex; thin/streched; no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); thin brainstem, small cerebellum; abnormal prenatal brain imaging; horacic lordosis, thoracolumbar scoliosis; no microcephaly (-HP:0000252); macrocephaly (HP:0000256); no facial dysmorphism (-HP:0000271); mild cerebral palsy; hypoplasia of external genitalia; mild neonatal hyperbilirubinemia
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-08-11 12:19:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD