Congenital disorder of glycosylation type 1E- MedGen UID:
- 324784
- •Concept ID:
- C1837396
- •
- Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin.
For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2- MedGen UID:
- 340052
- •Concept ID:
- C1853761
- •
- Disease or Syndrome
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).
Spinocerebellar ataxia type 40- MedGen UID:
- 1385103
- •Concept ID:
- C4518336
- •
- Disease or Syndrome
A very rare disease with characteristics of adult-onset unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
Intellectual disability, autosomal dominant 56- MedGen UID:
- 1638835
- •Concept ID:
- C4693389
- •
- Mental or Behavioral Dysfunction
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia- MedGen UID:
- 1648354
- •Concept ID:
- C4748041
- •
- Disease or Syndrome
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome- MedGen UID:
- 1780242
- •Concept ID:
- C5543287
- •
- Disease or Syndrome
CIMDAG syndrome (CIMDAG) is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia (CDA) (summary by Rodger et al., 2020 and Seu et al., 2020).
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities- MedGen UID:
- 1841232
- •Concept ID:
- C5830596
- •
- Disease or Syndrome
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) is an autosomal recessive neurologic disorder characterized by the onset of features in infancy or early childhood. Affected individuals show hypotonia, severe motor delay with ataxic gait or sometimes an inability to achieve walking, and impaired intellectual development with speech and language delay. Ocular defects can include optic atrophy, nystagmus, strabismus, and retinal dystrophy. Additional features may include seizures (in some), dysmorphic facial features, poor overall growth, and variable brain imaging abnormalities (Tepe et al., 2023).