Phenotype #0000238102

Individual ID 00313780
Associated disease DEE2
Inheritance Isolated (sporadic)
Diagnosis/Initial Epileptic encephalopathy
Age/Examination 24y (24 years)
Diagnosis/Definite CDKL5-related atypical Rett syndrome
Age/Diagnosis 25y
Age/Onset 00y02m
Phenotype/Onset HP:0001250(Seizure)
Phenotype details HP:0011344(Severe global developmental delay)
HP:0010864 (Intellectual disability, severe)
HP:0000252 (Microcephaly)
HP:0000733 (Stereotypy)
HP:0001251 (Ataxia)
HP:0002883 (Hyperventilation)
HP:0000490 (Deep set eyes)
HP:0000426 (Prominent nasal bridge)
HP:0000154 (Wide mouth)
HP:0012471 (Thick vermilion border)
HP:0000347 (Micrognathia)
HP:0000687 (Widely spaced teeth)
Protein -
Owner name Giuseppe Marangi
Database submission license No license selected
Created by Giuseppe Marangi
Date created 2020-10-05 11:43:20 +02:00 (CEST)
Date last edited 2020-10-08 09:49:01 +02:00 (CEST)

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