Traits

Traits linked to SDCCAG8

SHH signaling and ciliogenesis regulator SDCCAG8

The Human Phenotype Ontology links 117 traits to SDCCAG8, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Nephronophthisis	Always
Stage 5 chronic kidney disease	Always
Chronic kidney disease	Very often (80–99%)
Abnormality of the genitourinary system	Often (30–79%)
Early menopause	Often (30–79%)
Underdeveloped ovary	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Absent/small vagina	Sometimes (5–29%)
Decreased testicular size	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Hydrometrocolpos	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Infertility	Sometimes (5–29%)
Lack of bladder control due to nervous system injury	Sometimes (5–29%)
Menstrual irregularity	Sometimes (5–29%)
Multiple kidney cysts	Sometimes (5–29%)
Nephrotic syndrome	Sometimes (5–29%)
Polycystic ovaries	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Absent kidney	Not recorded
Cystic kidney disease	Not recorded
Renal dysplasia	Not recorded
Renal failure	Not recorded
Underdevelopment of external reproductive organs	Not recorded

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Always
Decreased clarity of vision	Always
Rod-cone dystrophy	Always
Abnormal retinal pigmentation	Very often (80–99%)
Cone/cone-rod dystrophy	Very often (80–99%)
Visual impairment	Very often (80–99%)
Abnormal color vision	Often (30–79%)
Abnormal electroretinogram	Often (30–79%)
Blindness	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Retina degeneration	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Neurodevelopmental delay	Very often (80–99%)
Autism	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Cognitive impairment	Often (30–79%)
Depression	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Short attention span	Often (30–79%)
Specific learning disability	Often (30–79%)
Abnormal speech pattern	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Breathy speech	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the oral cavity	Often (30–79%)
Abnormality of the sense of smell	Often (30–79%)
Dental crowding	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
High palate	Often (30–79%)
Decreased size of tooth	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Medial flaring of the eyebrow	Sometimes (5–29%)
Nasal inflammation	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Short neck	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating high-density lipoprotein cholesterol	Often (30–79%)
High liver enzymes	Often (30–79%)
Impaired fasting glucose	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Body fails to respond to insulin	Sometimes (5–29%)
Fatty infiltration of liver	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Postaxial polydactyly	Often (30–79%)
Short fingers or toes	Often (30–79%)
Club feet	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Curvature of outermost bone of little finger	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the gastrointestinal tract	Sometimes (5–29%)
Excessive buildup of connective tissue and scarring of liver at birth	Sometimes (5–29%)
Hepatic fibrosis	Sometimes (5–29%)
Celiac disease	Rarely (1–4%)
Enlarged colon lacking nerve cells	Rarely (1–4%)
Inflammation of the large intestine	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Middle ear infection	Sometimes (5–29%)
Recurrent middle ear infection	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of bone mineral density	Sometimes (5–29%)
Cone-shaped end part of bone	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Very often (80–99%)
Abnormality of the heart	Sometimes (5–29%)
Disease of the heart muscle	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Often (30–79%)
Abnormality of the endocrine system	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)
Asthma	Sometimes (5–29%)
Unusual bronchiolitis	Not recorded

Growth abnormality

Trait	How often it is seen
Obesity	Always
Short stature	Always
Childhood-onset truncal obesity	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Not recorded

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 SDCCAG8 and how often each is seen. Find out more at hpo.jax.org.

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