Traits

Traits linked to CACHD1

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The Human Phenotype Ontology links 79 traits to CACHD1, by body system: features seen in people with one of the gene's rare conditions.

CACHD1

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Always
Abnormality of cranium	Always
Decreased size of half of the face	Always
Benign eye tumor	Often (30–79%)
Fullness of eyelids	Often (30–79%)
Long eyebrows	Often (30–79%)
Monobrow	Often (30–79%)
Thick eyebrow	Often (30–79%)
Abnormally large tongue	Sometimes (5–29%)
Blocked tear duct	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Inflammation of eyelids	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Short lingual frenulum	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)
Sparse medial eyebrow	Sometimes (5–29%)
Triangular head shape	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal social behavior	Always
Anxiety	Always
Attention deficit	Always
Intellectual disability, borderline	Always
Intellectual disability, mild	Always
Irritability	Always
Low frustration tolerance	Always
Reduced social insight	Always
Cognitive impairment	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Motor delay	Often (30–79%)
Clumsiness	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Always
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)
Overfolding of the superior helices	Often (30–79%)
Small ears	Often (30–79%)
Thin ear helix	Often (30–79%)
Underdeveloped crus of the helix	Often (30–79%)
Uplifted earlobe	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Attachment of thumb close to wrist	Sometimes (5–29%)
Bowed legs	Sometimes (5–29%)
Broad big toe	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Forefoot adduction contracture	Sometimes (5–29%)
Front half of foot turns inward	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Accessory spleen	Always
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Narrowing of peripheral lung artery	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Always
Anteriorly placed anus	Often (30–79%)
Rectoperineal fistula	Often (30–79%)
Absent anus	Sometimes (5–29%)
Birth defect in which part of esophagus did not develop	Sometimes (5–29%)
Rectourethral fistula	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Always
Enlarged clitoris	Always
Hydronephrosis	Always
Hypospadias	Always
Undescended testes	Always

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Often (30–79%)
Birthmark	Sometimes (5–29%)
Darkened and thickened skin	Sometimes (5–29%)
Sparse hair	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Notched pupil	Sometimes (5–29%)
Peters anomaly	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	Always
Obesity	Always
Short stature	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Always

Abnormality of the musculoskeletal system

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

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	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 CACHD1 and how often each is seen. Find out more at hpo.jax.org.

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