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Items: 3

1.

Developmental and epileptic encephalopathy, 23

Developmental and epileptic encephalopathy-23 (DEE23) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life (range, 2-6 months). Affected individuals have severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features (summary by Perrault et al., 2014). [from OMIM]

MedGen UID:
862929
Concept ID:
C4014492
Disease or Syndrome
2.

Hypertrichosis lanuginosa congenita

Congenital hypertrichosis lanuginosa is a rare disorder characterized by excessive lanugo hair present at birth covering the entire body surface except the mucosae, palms, and soles (summary by De Raeve and Keymolen, 2011). [from OMIM]

MedGen UID:
66727
Concept ID:
C0235864
Congenital Abnormality
3.

Double eyebrow

This may present as a partial or complete duplication of the eyebrows. [from HPO]

MedGen UID:
488904
Concept ID:
C0431449
Congenital Abnormality
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