Phenotype #0000321954

Individual ID	00431360
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	birth weight -1.12, length +0.35, OFC -1.23; weight -1.5, height +2.25, OFC +1.5; motor delay (HP:0001270); 2y-walk; intellectual disability (HP:0001249); language delay (HP:0000750), single words; outbursts of anger, hyperactivity, self-injury; synkinesis with mirror movements of the hands (childhood), hypotonia; coarse facies, thick curly hair, hypertelorism, low-set ears, epicanthus large mouth, thick lower lip, sparse eyebrows, broad depressed nasal root; kyphosis, fifth finger bilateral clinodactyly, flat feet, valgus feet transverse palmar crease, 5y6m-pubic hair; MRI brain normal
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Fernanda Soledad Jalil
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-14 11:22:32 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD