Özellikler

AHDC1 ile ilişkili özellikler

AT-hook DNA binding motif containing 1

Human Phenotype Ontology, AHDC1 ile ilişkili 194 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

AHDC1

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Abnormal rhythmic movements of ankle	Her zaman
Dislocated hip since birth	Her zaman
Short fingers or toes	Her zaman
Tapered finger	Çok sık (%80–99)
Curvature of digit	Sık (%30–79)
High-arched foot	Sık (%30–79)
Short foot	Sık (%30–79)
Single transverse palmar crease	Sık (%30–79)
Small hand	Sık (%30–79)
Club feet	Bazen (%5–29)
Curvature of little finger	Bazen (%5–29)
Dropped arches	Bazen (%5–29)
Positional foot deformity	Bazen (%5–29)
Prominent fingertip pads	Bazen (%5–29)
Recurrent patellar dislocation	Bazen (%5–29)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Astigmatism	Her zaman
Involuntary, rapid, rhythmic eye movements	Her zaman
Lazy eye	Her zaman
Macular dystrophy	Her zaman
Cross-eyed	Sık (%30–79)
Drooping upper eyelid	Sık (%30–79)
Farsightedness	Sık (%30–79)
Inward turning cross eyed	Sık (%30–79)
Outward facing eye ball	Sık (%30–79)
Upbeat nystagmus	Sık (%30–79)
Wide-set eyes	Sık (%30–79)
Bulging eye	Bazen (%5–29)
Cerebral visual impairment	Bazen (%5–29)
Deeply set eye	Bazen (%5–29)
Mild myopia	Bazen (%5–29)

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Abnormal curve of the backbone	Her zaman
Low muscle tone	Her zaman
Poor head control	Her zaman
Progressive muscle weakness	Her zaman
Spinal muscle degeneration	Her zaman
Double-Jointed	Çok sık (%80–99)
Abnormality of the vertebral column	Sık (%30–79)
Funnel chest	Sık (%30–79)
Scoliosis	Sık (%30–79)
Spasticity and rigidity of muscles	Sık (%30–79)
Excessive inward curvature of lower spine	Bazen (%5–29)
Shield chest	Bazen (%5–29)
Spastic tetraparesis	Seyrek (%1–4)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Abnormality of the cochlear nerve	Her zaman
Chronic infections of the middle ear	Her zaman
Hearing impairment	Sık (%30–79)
Low-set ears	Sık (%30–79)
Cupped ear	Bazen (%5–29)
Overfolded ears	Bazen (%5–29)
Prominent ear	Bazen (%5–29)
Simple ear	Bazen (%5–29)
Small earlobe	Bazen (%5–29)
Small ears	Bazen (%5–29)
Uplifted earlobe	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Constipation	Her zaman
Poor swallowing	Her zaman
Tube feeding	Her zaman
Feeding difficulties	Sık (%30–79)
Inguinal hernia	Sık (%30–79)
Enlarged liver	Bazen (%5–29)
Omphalocele	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Low blood oxygen level	Her zaman
Neonatal respiratory distress	Her zaman
Respiratory failure requiring assisted ventilation	Her zaman
Upper airway obstruction	Her zaman
Softening of voice box tissue	Sık (%30–79)
Floppy windpipe	Bazen (%5–29)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
An opening in the wall separating the top two chambers of the heart	Sık (%30–79)
Hole in heart wall separating two lower heart chambers	Bazen (%5–29)
Mitral regurgitation	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Narrow nail	Her zaman
Soft skin	Sık (%30–79)
Absence of part of skin at birth	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Prenatal growth deficiency	Her zaman
Faltering weight	Sık (%30–79)
Short stature	Sık (%30–79)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Short penis	Sık (%30–79)
Undescended testes	Sık (%30–79)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Decreased activity of mitochondrial complex IV	Her zaman

Abnormality of the breast

Özellik	Ne sıklıkla görüldüğü
Wide-spaced nipples	Bazen (%5–29)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Impaired toileting ability	Her zaman

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: AHDC1 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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