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| Additional findings_Paediatric v0.2 | CDKL5 | Zornitza Stark Added phenotypes Epileptic encephalopathy, early infantile, 2 for gene: CDKL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | CDKL5 |
Zornitza Stark gene: CDKL5 was added gene: CDKL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2 |
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