Format

Send to:

Choose Destination

Links from PubMed

Items: 2

1.

Ichthyosis bullosa of Siemens

A rare autosomal dominant inherited form of ichthyosis. It is characterized by the presence of an erythematous skin with blisters at birth. The skin subsequently becomes dry, flaky and hyperkeratotic. [from NCI]

MedGen UID:
98153
Concept ID:
C0432306
Congenital Abnormality
2.

Emanuel syndrome

Emanuel syndrome is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. [from GeneReviews]

MedGen UID:
323030
Concept ID:
C1836929
Disease or Syndrome

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center