Phenotype #0000051374

Individual ID	00065268
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	Muscular hypotonia (HP:0001252), no feeding difficulties (-HP:0011968), esotropia (HP:0000565), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), sociable, content,interested in surroundings, Generalized myoclonic seizures (HP:0002123), Atonic seizures (HP:0010819), Generalized tonic-clonic seizures (HP:0002069), atypical absences (HP:0011150), severe constipation (HP:0002019), tactile aversion, Hypersensitivity for stimuli, no sleep disturbance (HP:0002360), mild scoliosis (HP:0002650),; birth 38w, Birth weight (percentile) 2,960 g (25th), OFC at birth (percentile) 32 cm (10th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344)
Age/Examination	15y (15 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 10:15:10 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)