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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Cone-shaped end part of bone	Visada
Abnormal vertebral body morphology	Labai dažnai (80–99%)
Advanced bone age	Labai dažnai (80–99%)
Speckled calcifications in end part of bone	Labai dažnai (80–99%)
Joint dislocation	Dažnai (30–79%)
Narrow spinal canal	Dažnai (30–79%)
Caudal interpedicular narrowing	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Irregular vertebral endplates	Kartais (5–29%)
Low muscle tone, in neonatal onset	Kartais (5–29%)
Scoliosis	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Delayed speech and language development	Visada
Intellectual disability	Visada
Peripheral neuropathy	Dažnai (30–79%)
Rise in pressure inside skull	Dažnai (30–79%)
Autism spectrum disorder	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Autism	Neužfiksuota
Global developmental delay	Neužfiksuota
More active than typical	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Wide-set eyes	Dažnai (30–79%)
Abnormally close eyes	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Inward turning cross eyed	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Blue eyes	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Labai dažnai (80–99%)
Growth delay as children	Dažnai (30–79%)
Prenatal growth deficiency	Dažnai (30–79%)
Mild short stature	Kartais (5–29%)
Obesity	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormal female external genitalia	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Hypospadias	Kartais (5–29%)
Menstrual irregularity	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Abnormality of the nail	Labai dažnai (80–99%)
Beauty mark	Kartais (5–29%)
Fair hair	Neužfiksuota
Red hair	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Hearing impairment	Dažnai (30–79%)
Ears rotated toward back of head	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased activity of gonads	Kartais (5–29%)
Underactive thyroid gland from birth	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Diabetes mellitus	Kartais (5–29%)
Elevated circulating parathyroid hormone level	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Low blood pressure	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Abnormality of immune system physiology	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

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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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