Traits

Traits linked to PDE6D

phosphodiesterase 6D

The Human Phenotype Ontology links 82 traits to PDE6D, 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
Abnormal oral frenulum morphology	Often (30–79%)
Broad nasal tip	Often (30–79%)
Bumpy tongue	Often (30–79%)
Cleft palate	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Eye folds	Often (30–79%)
Frontal bossing	Often (30–79%)
Hamartoma of tongue	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long face	Often (30–79%)
Tongue nodules	Often (30–79%)
Cleft of the mouth	Sometimes (5–29%)
Encephalocele	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Midline notch of upper alveolar ridge	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Abnormal facial shape	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Agenesis of cerebellar vermis	Always
Molar tooth sign on MRI	Always
Temporal cortical atrophy	Always
Underdevelopment of part of brain called corpus callosum	Always
Ataxia	Very often (80–99%)
Cerebellar vermis hypoplasia	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Abnormal gait	Often (30–79%)
Hypoplasia of olfactory tract	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Hypothalamic hamartoma	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Extra little finger	Always
Extra toe attached near the little toe	Always
Curvature of finger	Often (30–79%)
Preaxial polydactyly	Often (30–79%)
Short fingers or toes	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)
Webbed fingers or toes	Often (30–79%)
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Mesoaxial polydactyly	Sometimes (5–29%)
Y-shaped central long bones of hand	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Oculomotor apraxia	Always
Abnormally small eyeball	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Inward turning cross eyed	Often (30–79%)
Notched pupil	Often (30–79%)
Undetectable electroretinogram	Often (30–79%)
Wide-set eyes	Often (30–79%)
Cat eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Retinal dysplasia	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Often (30–79%)
Small kidneys	Often (30–79%)
Absent kidney	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Low muscle tone	Very often (80–99%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Short stature	Often (30–79%)
Prenatal growth deficiency	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
All organs on wrong side of body	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Very often (80–99%)
Apnea	Very often (80–99%)
Episodic tachypnea	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the hypothalamus-pituitary axis	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 PDE6D and how often each is seen. Find out more at hpo.jax.org.

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