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Items: 3

1.

Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum. [from ORPHANET]

MedGen UID:
1684142
Concept ID:
C5193057
Disease or Syndrome
2.

Developmental delay, impaired speech, and behavioral abnormalities

Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021). [from OMIM]

MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
3.

Nuchal cord

A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. [from HPO]

MedGen UID:
98024
Concept ID:
C0405124
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