Traits

Traits linked to PDE4D

phosphodiesterase 4D

The Human Phenotype Ontology links 108 traits to PDE4D, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Cât de frecvent apare
Depressed nasal bridge	Întotdeauna
Short nose	Întotdeauna
Decreased size of maxilla	Foarte des (80–99%)
Flat face	Foarte des (80–99%)
Flat nose	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Open mouth	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Zygomatic flattening	Foarte des (80–99%)
Big lower jaw	Des (30–79%)
Broad head shape	Des (30–79%)
Coarse facial features	Des (30–79%)
Corners of eye widely separated	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Frontal bossing	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Prominent forehead	Des (30–79%)
Short philtrum	Des (30–79%)
Abnormal tooth enamel	Uneori (5–29%)
Broad face	Uneori (5–29%)
Broad opening between the eyelids	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Increased thickness of skull cap	Uneori (5–29%)
Large forehead	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Narrow eyelid opening	Uneori (5–29%)
Open bite	Uneori (5–29%)
Prominent nasal tip	Uneori (5–29%)
Prominent nose	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Round face	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Short finger bones	Întotdeauna
Short fingers or toes	Întotdeauna
Short long bone of foot	Întotdeauna
Shortened long bone of hand	Întotdeauna
Abnormal shape of long bones of hand	Foarte des (80–99%)
Broad big toe	Foarte des (80–99%)
Broad foot	Foarte des (80–99%)
Short toe	Foarte des (80–99%)
Wide digital bones	Foarte des (80–99%)
Wide long bone of foot	Foarte des (80–99%)
Wide long bones of hand	Foarte des (80–99%)
Abnormal morphology of the radius	Des (30–79%)
Abnormal morphology of ulna	Des (30–79%)
Abnormal shape of shaft of long bone	Des (30–79%)
Abnormality of the thighbone	Des (30–79%)
Abnormality of the wide portion of a long bone	Des (30–79%)
Bowing of the long bones	Des (30–79%)
Cone-shaped end part of long bone	Des (30–79%)
Coxa valga	Des (30–79%)
Outward bow-leggedness	Des (30–79%)
Smaller or shorter than typical limbs	Des (30–79%)
Underdeveloped inner large forearm bone	Des (30–79%)
Underdeveloped outer large forearm bone	Des (30–79%)
Bilateral coxa valga	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Short middle bone of finger	Uneori (5–29%)
Upper limb undergrowth	Uneori (5–29%)
Accelerated wrist bone maturation	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Cone-shaped end part of bone	Întotdeauna
Abnormal vertebral body morphology	Foarte des (80–99%)
Advanced bone age	Foarte des (80–99%)
Speckled calcifications in end part of bone	Foarte des (80–99%)
Joint dislocation	Des (30–79%)
Narrow spinal canal	Des (30–79%)
Caudal interpedicular narrowing	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Irregular vertebral endplates	Uneori (5–29%)
Low muscle tone, in neonatal onset	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Delayed speech and language development	Întotdeauna
Intellectual disability	Întotdeauna
Peripheral neuropathy	Des (30–79%)
Rise in pressure inside skull	Des (30–79%)
Autism spectrum disorder	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Autism	Neînregistrat
Global developmental delay	Neînregistrat
More active than typical	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Wide-set eyes	Des (30–79%)
Abnormally close eyes	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Blue eyes	Neînregistrat

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Growth delay as children	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Mild short stature	Uneori (5–29%)
Obesity	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Abnormal female external genitalia	Des (30–79%)
Undescended testes	Des (30–79%)
Hypospadias	Uneori (5–29%)
Menstrual irregularity	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Abnormality of the nail	Foarte des (80–99%)
Beauty mark	Uneori (5–29%)
Fair hair	Neînregistrat
Red hair	Neînregistrat

Abnormality of the ear

Trait	Cât de frecvent apare
Hearing impairment	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Decreased activity of gonads	Uneori (5–29%)
Underactive thyroid gland from birth	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Diabetes mellitus	Uneori (5–29%)
Elevated circulating parathyroid hormone level	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Low blood pressure	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Abnormality of immune system physiology	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PDE4D and how often each is seen. Find out more at hpo.jax.org.

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