Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. [genecards.org]

Other symptoms—including sinus infections, poor growth, and infertility—affect other parts of the body. CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). [ecitydoc.com]

The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. [books.google.com]

Sir Archibald Garrod, the british physician who created the field of human biochemical genetics in 1902 by his study of alkaptonuria Alkaptonuria is an autosomal recessive aminoacidopathy characterized by accumulation of homogentisic acid (alkapton) in [ecitydoc.com]

stature-facial dysmorphism syndrome 3 Cases 352530 Intellectual disability-obesity- brain malformations-facial dysmorphism syndrome 2 Cases 397973 Intellectual disability-obesity- prognathism-eye and skin anomalies syndrome 2 Cases 369837 Intellectual [azkurs.org]

The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. [rarediseases.info.nih.gov]

Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. [zfin.org]

The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. [rarediseases.info.nih.gov]

Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. [uniprot.org]

The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. [rarediseases.info.nih.gov]

Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. [uniprot.org]

Signs and symptoms may begin in infancy and progress through childhood. [1] [2] Complex II deficiency has also been described in association with dilated cardiomyopathy (and heart failure in childhood), [4] hemolytic uremic syndrome and rhabdomyolysis [rarediseases.info.nih.gov]

Google Scholar Mancini D, Walter G, Reichek N et al (1992) Contribution of skeletal muscle atrophy to exercise intolerance and altered muscle metabolism in heart failure. Circulation 85 : 1364–1373. [link.springer.com]

Disease description A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. [uniprot.org]

It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. [1] Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures. [rarediseases.info.nih.gov]

retardation-progressive brain atrophy-basal ganglia disease syndrome 4 Cases 293168 Infantile-onset ascending hereditary spastic paralysis 17 Families 457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome [azkurs.org]

Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. [uniprot.org]

This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. [rarediseases.info.nih.gov]

Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. [genecards.org]

Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. [genecards.org]

It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. [1] Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures. [rarediseases.info.nih.gov]