Traits

Traits linked to RIPPLY2

ripply transcriptional repressor 2

The Human Phenotype Ontology links 42 traits to RIPPLY2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Missing part of vertebrae	Always
Abnormal intervertebral disk morphology	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Rib fusion	Very often (80–99%)
Rib segmentation abnormalities	Very often (80–99%)
Scoliosis	Very often (80–99%)
Shorter than typical length between neck and abdomen	Very often (80–99%)
Vertebral segmentation defect	Very often (80–99%)
Butterfly vertebrae	Often (30–79%)
Hunched back	Often (30–79%)
Narrow spinal canal	Often (30–79%)
Rounded neck	Often (30–79%)
Congenital diaphragmatic hernia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Short neck	Very often (80–99%)
Abnormally small head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent back of the head	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal morphology of female internal genitalia	Sometimes (5–29%)
Abnormality of the ureter	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Urogenital fistula	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Sometimes (5–29%)
Meningocele	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Finger syndactyly	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Anomalous pulmonary venous return	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Very often (80–99%)

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 RIPPLY2 and how often each is seen. Find out more at hpo.jax.org.

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