Tunnused

Geeniga DONSON seotud tunnused

DNA replication fork stabilization factor DONSON

Inimese fenotüübi ontoloogia seostab geeniga DONSON 110 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

DONSON

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Alati
Beaked nose	Alati
Depressed nasal bridge	Alati
Downward slanting of the opening between the eyelids	Alati
Flat face	Alati
Flat forehead	Alati
Full lips	Alati
Full lower lip	Alati
Full upper lip	Alati
High forehead	Alati
Limited hair on end of eyebrow	Alati
Long neck	Alati
Low hairline at back of neck	Alati
Narrow mouth	Alati
Short neck	Alati
Short opening between the eyelids	Alati
Small face	Alati
Small retruded chin	Alati
Smooth philtrum	Alati
Sparse eyebrow	Alati
Sparse scalp hair	Alati
Triangular face	Alati
Decreased size of maxilla	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Long eyelashes	Sageli (30–79%)
High palate	Mõnikord (5–29%)
Prominent forehead	Mõnikord (5–29%)
Submucous cleft soft palate	Mõnikord (5–29%)
Upward slanting of the opening between the eyelids	Mõnikord (5–29%)
Cleft palate	Pole registreeritud
Cystic hygroma	Pole registreeritud
Deformity of the skull	Pole registreeritud
Wide nose	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Absent kneecap	Alati
Acetabular dysplasia	Alati
Bunion	Alati
Clubbing of fingers and toes	Alati
Curvature of little finger	Alati
Dislocated knee since birth	Alati
Dislocated radial head	Alati
Fused toes	Alati
Hip dislocation	Alati
Hip flexion contracture	Alati
Inability to straighten knee	Alati
Knee dislocation	Alati
Limited pronation/supination of forearm	Alati
Short fingers or toes	Alati
Talipes varus	Alati
Tapered finger	Alati
Club feet	Sageli (30–79%)
Disproportionately short middle portion of limb	Mõnikord (5–29%)
Shortened long bone of hand	Mõnikord (5–29%)
Small kneecap	Mõnikord (5–29%)
Fused forearm bones	Harva (1–4%)
Underdeveloped outer large forearm bone	Harva (1–4%)
Absent thumb	Pole registreeritud
Forearm undergrowth	Pole registreeritud
Fusion of upper and lower arm bones	Pole registreeritud
Missing outer large bone of forearm	Pole registreeritud
Oligodactyly	Pole registreeritud
Short shinbone	Pole registreeritud
Smaller or shorter than typical limbs	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal craniofacial muscle tone	Alati
Delayed ability to walk	Alati
Inability to walk	Alati
Intellectual disability, mild	Alati
Delayed speech and language development	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Intellectual disability	Mõnikord (5–29%)
Simplified gyral pattern	Harva (1–4%)
Aplasia/Hypoplasia of the corpus callosum	Pole registreeritud
Aqueductal stenosis	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Delayed bone maturation	Alati
Narrow chest	Alati
Radial head subluxation	Alati
Slender long bone	Alati
Thin ribs	Alati
11 pairs of ribs	Harva (1–4%)
Missing ribs	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Enlarged clitoris	Alati
Short penis	Alati
Small labia majora	Alati
Small uterus	Alati
Undescended testes	Alati

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Birth length less than 3rd percentile	Alati
Faltering weight	Alati
Prenatal growth deficiency	Alati
Proportionate short stature	Alati
Short stature	Alati

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Alati
Low-set ears	Alati
Small ears	Alati
Abnormally shaped ears	Sageli (30–79%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Scaling skin	Alati
Spinal dimple	Alati
Stiff skin	Alati
Patchy lightened skin	Sageli (30–79%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Alati
Poor suck	Alati
Poor swallowing	Alati

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent ear infections	Alati
Recurrent respiratory infections	Alati
Skin rash	Alati

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
An opening in the wall separating the top two chambers of the heart	Alati
Muscular ventricular septal defect	Alati

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Alati
Poorly developed lungs	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Low levels of amniotic fluid	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball	Pole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga DONSON seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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