Trăsături

Trăsături asociate cu MID1

midline 1

Human Phenotype Ontology asociază 94 trăsături cu MID1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MID1

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Corners of eye widely separated	Întotdeauna
Long philtrum	Foarte des (80–99%)
Prominent forehead	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Abnormal facial shape	Des (30–79%)
Cleft lip	Des (30–79%)
Cleft palate	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Widow's peak	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Cleft upper lip	Uneori (5–29%)
Dandy-Walker malformation	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
High palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
One sided cleft upper lip	Uneori (5–29%)
Only one upper front tooth	Uneori (5–29%)
Pit in front of the ear	Uneori (5–29%)
Prominent metopic ridge	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Wide fontanelles	Uneori (5–29%)
Wider-than-typical soft spot of skull	Uneori (5–29%)
Born with teeth	Rar (1–4%)
Failure of development of between one and six teeth	Rar (1–4%)
Tongue tied	Rar (1–4%)
Abnormal nasopharynx morphology	Neînregistrat
Frontal bossing	Neînregistrat
Thin red part of the upper lip	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal corpus callosum morphology	Des (30–79%)
Cerebellar vermis hypoplasia	Des (30–79%)
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Short attention span	Des (30–79%)
Specific learning disability	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Abnormal shape of brain	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Aplasia/Hypoplasia of the cerebellar vermis	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Delayed ability to walk	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Poor speech	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Foarte des (80–99%)
Abnormality of the genitourinary system	Uneori (5–29%)
Cleft of scrotum	Uneori (5–29%)
Congenital posterior urethral valve	Uneori (5–29%)
Enlarged ovaries	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Scrotum surrounds penis	Uneori (5–29%)
Short penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Urinary tract abnormalities	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Heart shaped uterus	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor swallowing	Foarte des (80–99%)
Abnormal anus position	Uneori (5–29%)
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Absent anus	Uneori (5–29%)
Feeding difficulties in infancy	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Omphalocele	Uneori (5–29%)
Rectourethral fistula	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Acid reflux	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the heart	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Persistent left superior vena cava	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Laryngeal cleft	Des (30–79%)
Noisy breathing	Uneori (5–29%)
Floppy windpipe	Rar (1–4%)
Aspiration	Neînregistrat
Posterior pharyngeal cleft	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Drooping upper eyelid	Des (30–79%)
Abnormality of refraction	Rar (1–4%)
Cross-eyed	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Low-set ears	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Congenital diaphragmatic hernia	Uneori (5–29%)
Vertebral segmentation defect	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Des (30–79%)
Growth delay	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Thyroglossal cyst	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent aspiration pneumonia	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse voice	Uneori (5–29%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu MID1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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