DTD2 gene related symptoms and diseases
All the information presented here about the DTD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DTD2 gene
|Symptoms // Phenotype||% Cases|
|Intellectual disability||Very Common - Between 80% and 100% cases|
|Left ventricular hypertrophy||Very Common - Between 80% and 100% cases|
|Pigmentary retinopathy||Very Common - Between 80% and 100% cases|
|Optic disc pallor||Very Common - Between 80% and 100% cases|
|Congenital diaphragmatic hernia||Very Common - Between 80% and 100% cases|
Other less frequent symptoms and clinical featuresPatients with DTD2 gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- Coarctation of aorta
- Ventricular hypertrophy
- Wide anterior fontanel
- Febrile seizures
- Cardiac arrest
And 132 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DTD2 gene
Here you will find a list of rare diseases related to the DTD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED COMPLEX I DEFICIENCY
ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency, nadh:q(1) oxidoreductase deficiency, isolated nadh-coq reductase deficiency, isolated mitochondrial respiratory chain complex i deficiency, isolated nadh-coenzyme q reductase deficiency, nadh-coenzyme q reductase
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
Most common symptoms of ISOLATED COMPLEX I DEFICIENCY
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about ISOLATED COMPLEX I DEFICIENCY
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