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Items: 2

1.

Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies

X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (MRXSPF) is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females (Villegas et al., 2019; Diaz et al., 2020). [from OMIM]

MedGen UID:
1794140
Concept ID:
C5561930
Disease or Syndrome
2.

EEG with parietal focal spikes

EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. [from HPO]

MedGen UID:
868671
Concept ID:
C4023074
Finding

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