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Items: 4

1.

Neurodevelopmental disorder with hypotonia and dysmorphic facies

Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022). [from OMIM]

MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
2.

Trichohepatoneurodevelopmental syndrome

Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018). [from OMIM]

MedGen UID:
1648322
Concept ID:
C4748898
Disease or Syndrome
3.

Cervical hypertrichosis with underlying kyphoscoliosis

MedGen UID:
349343
Concept ID:
C1861695
Disease or Syndrome
4.

Thoracic hypertrichosis

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

MedGen UID:
868724
Concept ID:
C4023129
Finding
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