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Traits
Traits linked to SRCAP
Snf2 related CREBBP activator protein
The Human Phenotype Ontology links 126 traits to SRCAP, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Aggressive behavior | Always |
| Communication delay | Always |
| Delayed ability to walk | Always |
| Delayed speech and language development | Always |
| Speech apraxia | Very often (80–99%) |
| Autism spectrum disorder | Often (30–79%) |
| Behavioral abnormality | Often (30–79%) |
| Intellectual disability | Often (30–79%) |
| Intellectual disability, mild | Often (30–79%) |
| IQ between 34 and 49 | Often (30–79%) |
| Abnormal temper tantrums | Sometimes (5–29%) |
| Absent speech development | Sometimes (5–29%) |
| Anxiety | Sometimes (5–29%) |
| Attention deficit | Sometimes (5–29%) |
| Difficulty articulating speech | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| High pitched voice | Sometimes (5–29%) |
| Impulsivity | Sometimes (5–29%) |
| Obsessive compulsive behavior | Sometimes (5–29%) |
| Psychosis | Sometimes (5–29%) |
| Restlessness | Sometimes (5–29%) |
| Short attention span | Sometimes (5–29%) |
| Wide based walk | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Broad fingertip | Often (30–79%) |
| Broad thumb | Often (30–79%) |
| Curvature of little finger | Often (30–79%) |
| Short fingers or toes | Often (30–79%) |
| Avascular necrosis of the capital femoral epiphysis | Sometimes (5–29%) |
| Curvature of digit | Sometimes (5–29%) |
| Dislocated radial head | Sometimes (5–29%) |
| False joint (long bone in upper arm) | Sometimes (5–29%) |
| Increased bone density of end part of the outermost hand bones | Sometimes (5–29%) |
| Short middle bone of index finger | Sometimes (5–29%) |
| Short middle bone of the little finger | Sometimes (5–29%) |
| Short thumb | Sometimes (5–29%) |
| Shortened 1st long bone of hand | Sometimes (5–29%) |
| Shortened 5th long bone of hand | Sometimes (5–29%) |
| Shortened long bone of hand | Sometimes (5–29%) |
| Cone-shaped end part of finger bones | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Glanular hypospadias | Always |
| Absent kidney | Sometimes (5–29%) |
| Congenital posterior urethral valve | Sometimes (5–29%) |
| Cystic kidney disease | Sometimes (5–29%) |
| Dilatation of the renal pelvis | Sometimes (5–29%) |
| Epididymal cyst | Sometimes (5–29%) |
| Hydronephrosis | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Increased calcium level in kidney | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
| Varicocele | Sometimes (5–29%) |
| Polycystic kidney dysplasia | Rarely (1–4%) |
| Stage 5 chronic kidney disease | Rarely (1–4%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Delayed bone maturation | Very often (80–99%) |
| Double-Jointed | Often (30–79%) |
| Low muscle tone | Often (30–79%) |
| Shield chest | Often (30–79%) |
| 11 pairs of ribs | Sometimes (5–29%) |
| Abnormal formation of the hip | Sometimes (5–29%) |
| Enlarged joints | Sometimes (5–29%) |
| Kyphoscoliosis | Sometimes (5–29%) |
| Short collarbone | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Acid reflux | Sometimes (5–29%) |
| Celiac disease | Sometimes (5–29%) |
| Constipation | Sometimes (5–29%) |
| Inguinal hernia | Sometimes (5–29%) |
| Nasogastric tube feeding | Sometimes (5–29%) |
| Umbilical hernia | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Low-set ears | Often (30–79%) |
| Conductive deafness | Sometimes (5–29%) |
| Recurrent middle ear infection | Sometimes (5–29%) |
| Cochlear malformation | Rarely (1–4%) |
| Ears rotated toward back of head | Not recorded |
| Prominent ear | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Mesocardia | Sometimes (5–29%) |
| Narrowing of aorta | Sometimes (5–29%) |
| Persistent left superior vena cava | Sometimes (5–29%) |
| Tetralogy of Fallot | Rarely (1–4%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Cross-eyed | Often (30–79%) |
| Deeply set eye | Sometimes (5–29%) |
| Farsightedness | Sometimes (5–29%) |
| Abnormal anterior chamber morphology | Rarely (1–4%) |
| Close sighted | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Very often (80–99%) |
| Small for gestational age | Very often (80–99%) |
| Growth delay | Often (30–79%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Generalized hypertrichosis | Always |
| Excessive hairiness | Not recorded |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Early onset of puberty | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Baby eczema | Always |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Nasal speech | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Gluten intolerance | Rarely (1–4%) |
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 SRCAP and how often each is seen. Find out more at hpo.jax.org.
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