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)