Phenotype #0000206958

Individual ID	00269109
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth 35w (HP:0001622); autistic behaviours (HP:0000729), severe ID (HP:0010864), delayed motor milestones (HP:0002194), lack of speech (HP:0001344); muscular hypotonia (HP:0001252); MRI brain prominent anterior ventricle horns (HP:0002119), dilated paranasal sinus (HP:0000245), distended straight sinus, atrophy corpus callosum (HP:0007371), simplified gyral pattern (HP:0009879), gliosis (HP:0002171); acneiform lesions with dry skin (HP:0000958); minor dysmorphic features abnormal outer ear (HP:0000356), wide forehead (HP:0000337), flared eyebrows (HP:0011229), V-shaped, thin upper lip (HP:0000219)
Inheritance	Familial, autosomal recessive
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	00y00m01d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Evren Gümüş
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2019-11-06 09:22:19 +01:00 (CET)
Date last edited	2021-03-25 09:19:54 +01:00 (CET)