Traits

Traits linked to SDHD

succinate dehydrogenase complex subunit D

The Human Phenotype Ontology links 164 traits to SDHD, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Left ventricular hypertrophy	Always
Left ventricular noncompaction	Always
Left ventricular systolic dysfunction	Always
Mitral regurgitation	Always
Patent foramen ovale	Always
Stretched and thinned heart muscle	Always
Tricuspid regurgitation	Always
Abnormal left ventricular function	Often (30–79%)
Abnormality of the cardiovascular system	Often (30–79%)
Decrease in blood pressure upon standing up	Often (30–79%)
Enlarged and thickened heart muscle	Often (30–79%)
Fainting spell	Often (30–79%)
High blood pressure	Often (30–79%)
Hypertension associated with pheochromocytoma	Often (30–79%)
Hypertensive retinopathy	Often (30–79%)
Palpitations	Often (30–79%)
Positive regitine blocking test	Often (30–79%)
Sinus tachycardia	Often (30–79%)
Abnormal atrioventricular conduction	Sometimes (5–29%)
Arachnoid hemangiomatosis	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Carotid paraganglioma	Sometimes (5–29%)
Chronic noninfectious lymphadenopathy	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Facial telangiectasia	Sometimes (5–29%)
Heart murmur	Sometimes (5–29%)
Hypertensive crisis	Sometimes (5–29%)
Inflammation of heart muscle	Sometimes (5–29%)
Noncompaction cardiomyopathy	Sometimes (5–29%)
Right ventricular failure	Sometimes (5–29%)
Elevated heart rate	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
Dystonia	Always
Epilepsy	Always
Global developmental delay	Always
Jerking	Always
Loss of developmental milestones	Always
Reduced brain N-acetyl aspartate level by MRS	Always
Babinski sign	Often (30–79%)
Brisk knee jerk	Often (30–79%)
Cranial nerve paralysis	Often (30–79%)
Episodic paroxysmal anxiety	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Hyperactive deep tendon reflexes	Often (30–79%)
Motor delay	Often (30–79%)
Progressive degeneration of movement	Often (30–79%)
Progressive psychomotor deterioration	Often (30–79%)
Recurrent paroxysmal headache	Often (30–79%)
Upper limb hyperreflexia	Often (30–79%)
Communication delay	Sometimes (5–29%)
Cranial nerve compression	Sometimes (5–29%)
Focal myoclonic seizure	Sometimes (5–29%)
Inability to move vocal cords	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Moderate global developmental delay	Sometimes (5–29%)
Panic attack	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Dementia	Rarely (1–4%)
Loss of ability to walk	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Feeding difficulties	Always
Gastrointestinal stroma tumor	Very often (80–99%)
Abdominal pain	Often (30–79%)
Intermittent abdominal pain	Often (30–79%)
Intestinal carcinoid	Often (30–79%)
Intestinal obstruction	Often (30–79%)
Nausea	Often (30–79%)
Poor swallowing	Often (30–79%)
Protracted diarrhea	Often (30–79%)
Small intestine carcinoid	Often (30–79%)
Abdominal mass	Sometimes (5–29%)
Constipation	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Nausea and vomiting	Sometimes (5–29%)
Hepatic necrosis	Rarely (1–4%)
Lack of bowel sounds	Rarely (1–4%)
Gastrointestinal tract tumor	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Distal muscle wasting	Often (30–79%)
Generalized muscle weakness	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Skeletal myopathy	Often (30–79%)
Tired easily	Often (30–79%)
Frequent falls	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Spastic paraparesis	Sometimes (5–29%)
Spastic tetraparesis	Sometimes (5–29%)
Muscle tissue disease	Rarely (1–4%)
Poor head control	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Carcinoid tumor	Always
Adrenal pheochromocytoma	Very often (80–99%)
Extraadrenal pheochromocytoma	Very often (80–99%)
Paraganglioma	Very often (80–99%)
Paraganglioma of head and neck	Often (30–79%)
Increased serum serotonin	Sometimes (5–29%)
Pulmonary carcinoid tumor	Sometimes (5–29%)
Atypical pulmonary carcinoid tumor	Rarely (1–4%)
Chemodectoma	Not recorded
Elevated circulating catecholamine level	Not recorded
Glomus jugular tumor	Not recorded
Glomus tympanicum paraganglioma	Not recorded
Vagal paraganglioma	Not recorded

Laboratory abnormality

Trait	How often it is seen
High urine lactic acid levels	Always
Increased lactate in body	Always
Ketonuria	Always
Elevated urinary dopamine	Often (30–79%)
Elevated urinary epinephrine level	Often (30–79%)
Elevated urinary norepinephrine level	Often (30–79%)
High blood calcium levels	Often (30–79%)
High urine protein levels	Often (30–79%)
Abnormal circulating B-type natriuretic peptide concentration	Sometimes (5–29%)
Blood in urine	Sometimes (5–29%)
Elevated calcitonin	Sometimes (5–29%)
High blood sugar	Sometimes (5–29%)
High liver enzymes	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Optic disc pallor	Always
Pendular nystagmus	Always
Visual impairment	Always
Abnormality of the eye	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Increased tears	Sometimes (5–29%)
Absent iris	Rarely (1–4%)
Blindness	Rarely (1–4%)
Involuntary, rapid, rhythmic eye movements	Rarely (1–4%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Rarely (1–4%)
Pigmentary retinopathy	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Paroxysmal vertigo	Often (30–79%)
Pulsatile tinnitus	Often (30–79%)
Ringing in ears	Often (30–79%)
Conductive deafness	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Erythematous plaque	Often (30–79%)
Flushing	Often (30–79%)
Sporadic excessive sweating	Often (30–79%)
Paleness	Sometimes (5–29%)
Excessive sweating	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Glomerular sclerosis	Often (30–79%)
Cancer starting in small tubes in kidneys	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Vesicoureteral reflux	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Proportionate short stature	Often (30–79%)
Severe short stature	Often (30–79%)
Weight loss	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Always
Mild microcephaly	Sometimes (5–29%)
Retinal capillary hemangioma	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Often (30–79%)
Hoarse voice	Not recorded
Loss of voice	Not recorded

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Fatigue	Often (30–79%)
Night sweats	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Inability to straighten knee	Sometimes (5–29%)
Lower limb hypertonia	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	Always
Asthma	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Bronchoconstriction	Sometimes (5–29%)
Runny Nose	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex II	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SDHD and how often each is seen. Find out more at hpo.jax.org.

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