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Items: 8

1.

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

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). [from GeneReviews]

MedGen UID:
340052
Concept ID:
C1853761
Disease or Syndrome
2.

Congenital disorder of glycosylation type 1E

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). [from OMIM]

MedGen UID:
324784
Concept ID:
C1837396
Disease or Syndrome
3.

Spinocerebellar ataxia type 40

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. [from SNOMEDCT_US]

MedGen UID:
1385103
Concept ID:
C4518336
Disease or Syndrome
4.

Intellectual disability, autosomal dominant 56

MedGen UID:
1638835
Concept ID:
C4693389
Mental or Behavioral Dysfunction
5.

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation 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). [from OMIM]

MedGen UID:
1780242
Concept ID:
C5543287
Disease or Syndrome
6.

Intellectual developmental disorder with or without epilepsy or cerebellar ataxia

MedGen UID:
1648354
Concept ID:
C4748041
Disease or Syndrome
7.

Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities

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). [from OMIM]

MedGen UID:
1841232
Concept ID:
C5830596
Disease or Syndrome
8.

Pontocerebellar atrophy

Atrophy affecting the pons and the cerebellum. [from HPO]

MedGen UID:
381261
Concept ID:
C1853766
Disease or Syndrome; Finding
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