Phenotype #0000051372

Individual ID	00065264
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), Poor eye contact (HP:0000817), minimal interest in surroundings (HP:0000723), Generalized tonic-clonic seizures (HP:0002069), severe constipation (HP:0002019), no tactile aversion, Hypersensitivity for stimuli, Obstructive sleep apnea (HP:0002870), Hypoplasia of the corpus callosum (HP:0002079), non-specific myopathic changes on muscle biopsy (HP:0003198),; birth 41w, Birth weight (percentile) 3,000 g (25th), OFC at birth (percentile) 33 cm (25th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344)
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-05-25 09:29:44 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)