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Items: 3

1.

DEGCAGS syndrome

DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021). [from OMIM]

MedGen UID:
1794177
Concept ID:
C5561967
Disease or Syndrome
2.

Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity

Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023). [from OMIM]

MedGen UID:
1841145
Concept ID:
C5830509
Disease or Syndrome
3.

Abnormal myelination

Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. [from HPO]

MedGen UID:
347527
Concept ID:
C1857704
Finding

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