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Items: 2

1.

Intellectual disability, autosomal recessive 53

Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) is an autosomal recessive disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar atrophy, ataxia, and nonspecific dysmorphic features. NEDHSCA is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway. Some patients with NEDHSCA may have the Emm-null blood group phenotype (see 619812) (summary by Makrythanasis et al., 2016; Duval et al., 2021). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). [from OMIM]

MedGen UID:
934761
Concept ID:
C4310794
Disease or Syndrome
2.

EEG with focal spikes

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

MedGen UID:
869063
Concept ID:
C4023481
Finding

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