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Items: 5

1.

GM3 synthase deficiency

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016). [from OMIM]

MedGen UID:
323005
Concept ID:
C1836824
Disease or Syndrome
2.

Fasting hypoglycemia

HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast. [from MeSH]

MedGen UID:
75765
Concept ID:
C0271708
Disease or Syndrome
3.

Hypoglycemia

A decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
4.

Atypical lipomatous tumor

An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes. [from NCI]

MedGen UID:
266102
Concept ID:
C1266129
Neoplastic Process
5.

Well-differentiated liposarcoma

Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes. [from ORDO]

MedGen UID:
237164
Concept ID:
C1370889
Neoplastic Process
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