MOGS-congenital disorder of glycosylation- MedGen UID:
- 342954
- •Concept ID:
- C1853736
- •
- Disease or Syndrome
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).
Short stature-craniofacial anomalies-genital hypoplasia syndrome- MedGen UID:
- 357988
- •Concept ID:
- C1867443
- •
- Disease or 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).
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome- MedGen UID:
- 382718
- •Concept ID:
- C2675904
- •
- Disease or 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.
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies- MedGen UID:
- 1684725
- •Concept ID:
- C5231416
- •
- Disease or Syndrome
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).