Traits

Traits linked to RIC1

RIC1 partner of RAB6A GEF complex

The Human Phenotype Ontology links 42 traits to RIC1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormality of tooth eruption	Very often (80–99%)
Abnormal dental position	Often (30–79%)
Cleft lip	Often (30–79%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Eye folds	Often (30–79%)
Long face	Often (30–79%)
Long philtrum	Often (30–79%)
Mild microcephaly	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
One sided cleft palate	Often (30–79%)
Velopharyngeal incompetence	Often (30–79%)
Abnormal number of permanent teeth	Sometimes (5–29%)
Bad bite	Sometimes (5–29%)
Deep bite	Sometimes (5–29%)
Hole in roof of mouth	Sometimes (5–29%)
Missing lateral incisor	Sometimes (5–29%)
Peg-shaped maxillary lateral incisors	Sometimes (5–29%)
Right and left cleft palate	Sometimes (5–29%)
Decreased size of maxilla	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Global developmental delay	Always
Intellectual disability	Always
Attention deficit	Very often (80–99%)
Delayed speech and language development	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Speech articulation difficulties	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)
Poor suck	Often (30–79%)
Inguinal hernia	Sometimes (5–29%)
Malnutrition	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Often (30–79%)
Small ears	Often (30–79%)
Conductive deafness	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye at birth	Very often (80–99%)
Cross-eyed	Often (30–79%)
Lazy eye	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Often (30–79%)

Abnormality of the musculoskeletal system

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

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Sometimes (5–29%)

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 RIC1 and how often each is seen. Find out more at hpo.jax.org.

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