U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 6

  • The following term was not found in MedGen: comOmega.
1.

Peroxisome biogenesis disorder 9B

Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life. [from GeneReviews]

MedGen UID:
440765
Concept ID:
C2749346
Disease or Syndrome
2.

Autosomal recessive complex spastic paraplegia type 9B

Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). [from OMIM]

MedGen UID:
1800403
Concept ID:
C5568980
Disease or Syndrome
3.

Multiple mitochondrial dysfunctions syndrome 9b

Multiple mitochondrial dysfunctions syndrome-9B (MMDS9B) is characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures (summary by Masnada et al., 2023). [from OMIM]

MedGen UID:
1053812
Concept ID:
CN378115
Disease or Syndrome
4.

Autosomal dominant complex spastic paraplegia type 9B

A rare predominantly pure hereditary spastic paraplegia with characteristics of juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment and urinary symptoms. Cognition is normal. [from SNOMEDCT_US]

MedGen UID:
1800402
Concept ID:
C5568979
Disease or Syndrome
5.

Glycogen storage disease IXb

Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth restriction, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). While symptoms and biochemical abnormalities of liver PhK deficiency were thought to improve with age, it is becoming evident that affected individuals need to be monitored for long-term complications such as liver fibrosis and cirrhosis. [from GeneReviews]

MedGen UID:
107772
Concept ID:
C0543514
Disease or Syndrome
6.

Myopathy, congenital proximal, with minicore lesions

Congenital myopathy-9B (CMYO9B) is an autosomal recessive early-onset skeletal muscle disorder mainly affecting proximal muscles. Affected individuals have neonatal hypotonia followed by mildly delayed walking in childhood. Muscle weakness is slowly progressive, resulting in positive Gowers sign and difficulty running or climbing, but most patients remain ambulatory. Some patients develop respiratory involvement requiring ventilatory support, whereas cardiac function is unaffected. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and multiminicore myopathy (Estan et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

MedGen UID:
1717569
Concept ID:
C5394193
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...