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Items: 5

1.

MOGS-congenital disorder of glycosylation

A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). [from SNOMEDCT_US]

MedGen UID:
342954
Concept ID:
C1853736
Disease or Syndrome
2.

Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

For a detailed discussion of the WAGR syndrome, see 194072. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene. [from OMIM]

MedGen UID:
382718
Concept ID:
C2675904
Disease or Syndrome
3.

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Pterygia, impaired intellectual development, and distinctive craniofacial features is a chromosomal disorder characterized by these cardinal features. Craniofacial features include trigonocephaly and retrognathia. Intellectual development may be severely impaired (summary by Devriendt et al., 2000). [from OMIM]

MedGen UID:
357988
Concept ID:
C1867443
Disease or Syndrome
4.

Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies

Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) is a complex syndromic disorder including features of moderate to severe psychomotor delay leading to impaired intellectual development, dysplastic corpus callosum, cortical malformations, hypotonia, dyspraxia, musculoskeletal abnormalities, and feeding difficulties. Seizures occur in about half of patients. Dysmorphic features include wide forehead with frontal bossing and high anterior hairline, prominent eyes with upslanted palpebral fissures, arched eyebrows, long eyelashes, midface hypoplasia, broad nasal bridge, and anteverted nares (summary by Scala et al., 2022). [from OMIM]

MedGen UID:
1684725
Concept ID:
C5231416
Disease or Syndrome
5.

Hypoplastic female external genitalia

Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). [from HPO]

MedGen UID:
868321
Concept ID:
C4022715
Anatomical Abnormality

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