Tunnused

Geeniga MSL2 seotud tunnused

MSL complex subunit 2

Inimese fenotüübi ontoloogia seostab geeniga MSL2 118 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

MSL2

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Age-inappropriate oppositional behavior	Alati
Autism	Alati
Bilateral tonic-clonic seizure with generalized onset	Alati
Cerebral palsy	Alati
Clonus	Alati
Clumsiness	Alati
Degeneration of cerebellum	Alati
Delayed CNS myelination	Alati
Delayed motor skills	Alati
EEG with burst suppression	Alati
Epileptic encephalopathy	Alati
Epileptic spasm	Alati
Extra-axial cerebrospinal fluid accumulation	Alati
Febrile seizure (within the age range of 3 months to 6 years)	Alati
Focal impaired awareness seizure	Alati
Hypsarrhythmia	Alati
Inability to coordinate movements when walking	Alati
Incoordination	Alati
IQ between 34 and 49	Alati
Loss of developmental milestones	Alati
More active than typical	Alati
Motor delay	Alati
Myoclonic absence seizure	Alati
Myoclonic seizure	Alati
Obstructive sleep apnea	Alati
Receptive language delay	Alati
Repetitive movements	Alati
Snoring	Alati
Thin corpus callosum	Alati
Waking up screaming	Alati
Global developmental delay	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Aggressive behavior	Sageli (30–79%)
Anxiety	Sageli (30–79%)
Autism spectrum disorder	Sageli (30–79%)
Cavum septum pellucidum	Sageli (30–79%)
Delayed speech and language development	Sageli (30–79%)
Echoing another person's speech	Sageli (30–79%)
EEG abnormality	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
More grooves in brain	Sageli (30–79%)
Motor regression	Sageli (30–79%)
Periventricular nodular heterotopia	Sageli (30–79%)
Recurrent hand flapping	Sageli (30–79%)
Schizencephaly	Sageli (30–79%)
Self-injurious behavior	Sageli (30–79%)
Boiling mad	Mõnikord (5–29%)
Communication delay	Mõnikord (5–29%)
Spinning	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Asymmetry of the posterior head	Alati
Broad philtrum	Alati
Drooling	Alati
Little lower jaw	Alati
Narrow jaw	Alati
Smooth philtrum	Alati
Webbed neck	Sageli (30–79%)
Abnormal fontanelle morphology	Mõnikord (5–29%)
Abnormality of cranium	Mõnikord (5–29%)
Abnormally small head	Mõnikord (5–29%)
Big calvaria	Mõnikord (5–29%)
Decreased volume of lip	Mõnikord (5–29%)
Downward slanting of the opening between the eyelids	Mõnikord (5–29%)
Eye folds	Mõnikord (5–29%)
Frontal bossing	Mõnikord (5–29%)
Long face	Mõnikord (5–29%)
Narrow forehead	Mõnikord (5–29%)
Receding chin	Mõnikord (5–29%)
Bifid uvula	Harva (1–4%)
Downturned corners of mouth	Harva (1–4%)
High palate	Harva (1–4%)
Midface retrusion	Harva (1–4%)
Tongue tied	Harva (1–4%)
Triangular face	Harva (1–4%)
Upward slanting of the opening between the eyelids	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Close sighted	Alati
Clouding of the lens of the eye	Alati
Farsightedness	Alati
Severe near sightedness	Alati
Wide-set eyes	Alati
Deeply set eye	Sageli (30–79%)
Outward facing eye ball	Sageli (30–79%)
Abnormally close eyes	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Macular hypoplasia	Mõnikord (5–29%)
Abnormally small eyeball	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Generalized decreased muscle tone	Alati
Low muscle tone	Alati
Low muscle tone in trunk	Alati
Scoliosis	Alati
Spastic diplegia	Alati
Thoracic scoliosis	Alati
Double-Jointed	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Constipation	Alati
Feeding difficulties	Alati
Poor swallowing	Alati
Inguinal hernia	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Bunion	Alati
Dropped arches	Harva (1–4%)
Slender finger	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Anteverted ears	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Hypospadias	Alati
Undescended testes	Alati
Unilateral cryptorchidism	Alati

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Inverted nipples	Mõnikord (5–29%)
Wide-spaced nipples	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Dermal translucency	Mõnikord (5–29%)
Spinal dimple	Harva (1–4%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Decreased ability to exercise	Alati
Lack of energy and strength	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Obesity	Alati
Tall stature	Alati

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Patent ductus arteriosus	Alati

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Underactive thyroid	Alati

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Baby eczema	Alati

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Apnea	Alati

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 MSL2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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