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Items: 3

1.

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) is an autosomal recessive disorder characterized by severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features, and distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly. Brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum. The disorder may be complicated by feeding and/or breathing difficulties, often resulting in death in infancy (summary by Magini et al., 2019). [from OMIM]

MedGen UID:
1684840
Concept ID:
C5231431
Disease or Syndrome
2.

Cervical hypertrichosis with underlying kyphoscoliosis

MedGen UID:
349343
Concept ID:
C1861695
Disease or Syndrome
3.

Lumbar hypertrichosis

Excessive, increased hair growth located in the lumbar region. [from HPO]

MedGen UID:
868725
Concept ID:
C4023130
Finding
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