"Atypical" Rett or Angelman syndrome mimics | Features |
MBD5/2q31.1 microdeletion | Minimal speech, seizures, microcephaly, behavioral disorders, short stature, coarse facies |
FOXG1/chromosome 14 microdeletion | Congenital microcephaly, epilepsy, Rett-like phenotype, synophrys, dyskinesia |
SLC9A6 (Christianson syndrome) | Epilepsy, ataxia, acquired microcephaly, lack of speech, slender body habitus |
TCF4 Pitt-Hopkins syndrome/18q21.1 microdeletion | Wide mouth, fleshy lips, intermittent overbreathing |
Atypical adenylosuccinate lyase deficiency | Hyperactivity, severe speech deficits, seizures, happy disposition, stereotypies |
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