Trăsături

Trăsături asociate cu AHDC1

AT-hook DNA binding motif containing 1

Human Phenotype Ontology asociază 194 trăsături cu AHDC1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

AHDC1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal corpus callosum morphology	Întotdeauna
Abnormal gait	Întotdeauna
Babinski sign	Întotdeauna
Bilateral tonic-clonic seizure with focal onset	Întotdeauna
Degeneration of cerebrum	Întotdeauna
Delayed ability to stand	Întotdeauna
Delayed speech and language development	Întotdeauna
Difficulty sleeping	Întotdeauna
EEG abnormality	Întotdeauna
Frontal cortical atrophy	Întotdeauna
Global developmental delay	Întotdeauna
Grand mal seizures	Întotdeauna
Intellectual disability	Întotdeauna
Jerking	Întotdeauna
Loss of developmental milestones	Întotdeauna
More active than typical	Întotdeauna
Motor delay	Întotdeauna
Poor speech	Întotdeauna
Slow movements	Întotdeauna
Temporal cortical atrophy	Întotdeauna
Wide based walk	Întotdeauna
Delayed ability to sit	Foarte des (80–99%)
Delayed ability to walk	Foarte des (80–99%)
Obstructive sleep apnea	Foarte des (80–99%)
Abnormal shape of brain	Des (30–79%)
Absent speech development	Des (30–79%)
Aggressive behavior	Des (30–79%)
Anxiety	Des (30–79%)
Ataxia	Des (30–79%)
Autism	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Communication delay	Des (30–79%)
Delayed CNS myelination	Des (30–79%)
Epilepsy	Des (30–79%)
Impulsivity	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Intellectual disability, severe	Des (30–79%)
IQ between 34 and 49	Des (30–79%)
Pauses in breathing while sleeping	Des (30–79%)
Reduced cerebral white matter volume	Des (30–79%)
Self-injurious behavior	Des (30–79%)
Simplified gyral pattern	Des (30–79%)
Snoring	Des (30–79%)
Thin corpus callosum	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Agenesis of corpus callosum	Uneori (5–29%)
Cerebral hypomyelination	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Extra-axial cerebrospinal fluid accumulation	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Focal emotional seizure with laughing	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Periventricular leukomalacia	Uneori (5–29%)
Retrocerebellar cyst	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Small brainstem	Uneori (5–29%)
Subcortical U fiber lesion	Uneori (5–29%)
Subependymal cysts	Uneori (5–29%)
Teeth grinding	Uneori (5–29%)
Cerebral palsy	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormality of the head	Întotdeauna
Bicoronal synostosis	Întotdeauna
Chewing difficulties	Întotdeauna
Coronal craniosynostosis	Întotdeauna
Decrease in jaw mobility	Întotdeauna
Enlarged cisterna magna	Întotdeauna
Eye folds	Întotdeauna
High forehead	Întotdeauna
Lambdoidal craniosynostosis	Întotdeauna
Long, narrow head	Întotdeauna
Narrow eyelid opening	Întotdeauna
Wide mouth	Întotdeauna
Abnormal facial shape	Des (30–79%)
Abnormally small head	Des (30–79%)
Asymmetry of the posterior head	Des (30–79%)
Big calvaria	Des (30–79%)
Broad forehead	Des (30–79%)
Broad nasal tip	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
High palate	Des (30–79%)
Horizontal eyebrow	Des (30–79%)
Little lower jaw	Des (30–79%)
Long philtrum	Des (30–79%)
Monobrow	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Relatively large head	Des (30–79%)
Short columella	Des (30–79%)
Smooth philtrum	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Underdeveloped tissue around nostril	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Almond shaped eyes	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Broad opening between the eyelids	Uneori (5–29%)
Broad philtrum	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Drooping lower lip	Uneori (5–29%)
Early closure of midline skull joint	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Low hanging columella	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Narrow mouth	Uneori (5–29%)
Short chin	Uneori (5–29%)
Short neck	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Submucous cleft palate	Uneori (5–29%)
Tented mouth	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormal rhythmic movements of ankle	Întotdeauna
Dislocated hip since birth	Întotdeauna
Short fingers or toes	Întotdeauna
Tapered finger	Foarte des (80–99%)
Curvature of digit	Des (30–79%)
High-arched foot	Des (30–79%)
Short foot	Des (30–79%)
Single transverse palmar crease	Des (30–79%)
Small hand	Des (30–79%)
Club feet	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Positional foot deformity	Uneori (5–29%)
Prominent fingertip pads	Uneori (5–29%)
Recurrent patellar dislocation	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Astigmatism	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Lazy eye	Întotdeauna
Macular dystrophy	Întotdeauna
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Farsightedness	Des (30–79%)
Inward turning cross eyed	Des (30–79%)
Outward facing eye ball	Des (30–79%)
Upbeat nystagmus	Des (30–79%)
Wide-set eyes	Des (30–79%)
Bulging eye	Uneori (5–29%)
Cerebral visual impairment	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Mild myopia	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal curve of the backbone	Întotdeauna
Low muscle tone	Întotdeauna
Poor head control	Întotdeauna
Progressive muscle weakness	Întotdeauna
Spinal muscle degeneration	Întotdeauna
Double-Jointed	Foarte des (80–99%)
Abnormality of the vertebral column	Des (30–79%)
Funnel chest	Des (30–79%)
Scoliosis	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Excessive inward curvature of lower spine	Uneori (5–29%)
Shield chest	Uneori (5–29%)
Spastic tetraparesis	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormality of the cochlear nerve	Întotdeauna
Chronic infections of the middle ear	Întotdeauna
Hearing impairment	Des (30–79%)
Low-set ears	Des (30–79%)
Cupped ear	Uneori (5–29%)
Overfolded ears	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Simple ear	Uneori (5–29%)
Small earlobe	Uneori (5–29%)
Small ears	Uneori (5–29%)
Uplifted earlobe	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Constipation	Întotdeauna
Poor swallowing	Întotdeauna
Tube feeding	Întotdeauna
Feeding difficulties	Des (30–79%)
Inguinal hernia	Des (30–79%)
Enlarged liver	Uneori (5–29%)
Omphalocele	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Low blood oxygen level	Întotdeauna
Neonatal respiratory distress	Întotdeauna
Respiratory failure requiring assisted ventilation	Întotdeauna
Upper airway obstruction	Întotdeauna
Softening of voice box tissue	Des (30–79%)
Floppy windpipe	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Narrow nail	Întotdeauna
Soft skin	Des (30–79%)
Absence of part of skin at birth	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Întotdeauna
Faltering weight	Des (30–79%)
Short stature	Des (30–79%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Short penis	Des (30–79%)
Undescended testes	Des (30–79%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased activity of mitochondrial complex IV	Întotdeauna

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Impaired toileting ability	Întotdeauna

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 AHDC1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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