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)

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