Microcephaly, epilepsy, and diabetes syndrome- MedGen UID:
- 481870
- •Concept ID:
- C3280240
- •
- Disease or Syndrome
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.
Odontochondrodysplasia 2 with hearing loss and diabetes- MedGen UID:
- 1782909
- •Concept ID:
- C5543275
- •
- Disease or Syndrome
Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability (Cauwels et al., 2005; Lekszas et al., 2020).
For a discussion of genetic heterogeneity of ODCD, see ODCD1 (184260).
Congenital disorder of glycosylation, type IIw- MedGen UID:
- 1794196
- •Concept ID:
- C5561986
- •
- Disease or Syndrome
Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021).
For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).