Phenotype #0000228460

Individual ID	00301155
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	born at 38w; global developmental delay (HP:0001263), able to lift his head (barely), unable to track objects, roll, sit, crawl, does not babble; epilepsy (HP:0012847), 7m-infantile spasms (0012469); hypotonia (HP:0001290); dysmorphic face (HP:0001999), hypotelorism (HP:0000601), prominent nose (HP:0000448), bulbous tip (HP:0005274), large mouth, (HP:0000154), widely spaced teeth (HP:0000687); no scoliosis (-HP:0002650); MRI brain mild atrophy (HP:0012444); 10w-episodes of cyanosis (HP:0000961); 6m-generalized tonic-clonic seizures (HP:0025190); EEG hypsarrhythmia with burst suppression; height 86 cm (28th), weight 11.5 kg (32th), head circumference 47.5 cm (29th); global developmental delay (HP:0001263)
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	00y09m
Phenotype/Onset	cyanosis (HP:0000961)
Protein	-
Owner name	Joaquin De La Torre Vela
Database submission license	No license selected
Created by	Joaquin De La Torre Vela
Date created	2020-05-08 12:03:32 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)