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Traits
Traits linked to GRIP1
glutamate receptor interacting protein 1
The Human Phenotype Ontology links 80 traits to GRIP1, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Beaked nose | Always |
| Little lower jaw | Always |
| Wide nose | Always |
| Absent tear duct | Very often (80–99%) |
| Cryptophthalmos | Very often (80–99%) |
| Malformed tear ducts | Very often (80–99%) |
| Abnormal of nasal shape | Often (30–79%) |
| Bad bite | Often (30–79%) |
| Cleft tongue | Often (30–79%) |
| Dental crowding | Often (30–79%) |
| Depressed nasal bridge | Often (30–79%) |
| Abnormally small head | Sometimes (5–29%) |
| Cleft nostril | Sometimes (5–29%) |
| Cleft of the mouth | Sometimes (5–29%) |
| Cleft upper lip | Sometimes (5–29%) |
| Cranial defect | Sometimes (5–29%) |
| Encephalocele | Sometimes (5–29%) |
| High palate | Sometimes (5–29%) |
| Midline nasal groove | Sometimes (5–29%) |
| Underdeveloped tissue around nostril | Sometimes (5–29%) |
| Wide nasal bridge | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Smaller than typical growth of scrotum | Always |
| Absent/small kidney | Very often (80–99%) |
| Urinary tract abnormalities | Very often (80–99%) |
| Abnormal vagina morphology | Often (30–79%) |
| Abnormally closed or absent vagina | Often (30–79%) |
| Ambiguous external genitalia | Often (30–79%) |
| Bilateral renal agenesis | Often (30–79%) |
| Female pseudohermaphroditism | Often (30–79%) |
| Underdeveloped bladder | Often (30–79%) |
| Underdeveloped penis | Often (30–79%) |
| Ureteral agenesis | Often (30–79%) |
| Heart shaped uterus | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
| Urethral atresia | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Low-set ears | Always |
| Abnormality of the middle ear | Often (30–79%) |
| Abnormality of the outer ear | Often (30–79%) |
| Abnormally shaped ears | Often (30–79%) |
| Ears rotated toward back of head | Often (30–79%) |
| Simple ear | Often (30–79%) |
| Absent ear canal | Sometimes (5–29%) |
| Conductive deafness | Sometimes (5–29%) |
| Small ears | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Absent anus | Often (30–79%) |
| Accumulation of fluid in the abdomen | Often (30–79%) |
| Anorectal anomaly | Often (30–79%) |
| Narrowing of anal opening | Often (30–79%) |
| Abnormal anus position | Sometimes (5–29%) |
| Omphalocele | Sometimes (5–29%) |
| Umbilical hernia | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormal lung lobation | Often (30–79%) |
| Laryngeal hypoplasia | Often (30–79%) |
| Laryngeal stenosis | Often (30–79%) |
| Tracheal atresia | Often (30–79%) |
| Narrowing of windpipe | Sometimes (5–29%) |
| Poorly developed lungs | Sometimes (5–29%) |
| Subglottic stenosis | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Cutaneous syndactyly | Always |
| Short toe | Always |
| Finger syndactyly | Very often (80–99%) |
| Fused toes | Often (30–79%) |
| Limb undergrowth | Rarely (1–4%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Blindness | Very often (80–99%) |
| Abnormally small eyeball | Often (30–79%) |
| Absence of eyeballs | Often (30–79%) |
| Wide-set eyes | Often (30–79%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Vertebral segmentation defect | Sometimes (5–29%) |
| Abnormality of the ribs | Rarely (1–4%) |
| Wide pubic symphysis | Rarely (1–4%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Too much cerebrospinal fluid in the brain | Often (30–79%) |
| Intellectual disability | Sometimes (5–29%) |
| Myelomeningocele | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Low levels of amniotic fluid | Often (30–79%) |
| Sonographic non-visualized fetal bladder | Often (30–79%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Wide-spaced nipples | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiovascular system morphology | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Abnormal hair pattern | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Nonimmune hydrops fetalis | Often (30–79%) |
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 GRIP1 and how often each is seen. Find out more at hpo.jax.org.
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