특성

AHDC1 연관 특성

AT-hook DNA binding motif containing 1

인간 표현형 온톨로지가 AHDC1에 연결하는 특성은 194개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of limbs

특성	나타나는 빈도
Abnormal rhythmic movements of ankle	항상
Dislocated hip since birth	항상
Short fingers or toes	항상
Tapered finger	매우 자주 (80–99%)
Curvature of digit	자주 (30–79%)
High-arched foot	자주 (30–79%)
Short foot	자주 (30–79%)
Single transverse palmar crease	자주 (30–79%)
Small hand	자주 (30–79%)
Club feet	가끔 (5–29%)
Curvature of little finger	가끔 (5–29%)
Dropped arches	가끔 (5–29%)
Positional foot deformity	가끔 (5–29%)
Prominent fingertip pads	가끔 (5–29%)
Recurrent patellar dislocation	가끔 (5–29%)

Abnormality of the eye

특성	나타나는 빈도
Astigmatism	항상
Involuntary, rapid, rhythmic eye movements	항상
Lazy eye	항상
Macular dystrophy	항상
Cross-eyed	자주 (30–79%)
Drooping upper eyelid	자주 (30–79%)
Farsightedness	자주 (30–79%)
Inward turning cross eyed	자주 (30–79%)
Outward facing eye ball	자주 (30–79%)
Upbeat nystagmus	자주 (30–79%)
Wide-set eyes	자주 (30–79%)
Bulging eye	가끔 (5–29%)
Cerebral visual impairment	가끔 (5–29%)
Deeply set eye	가끔 (5–29%)
Mild myopia	가끔 (5–29%)

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Abnormal curve of the backbone	항상
Low muscle tone	항상
Poor head control	항상
Progressive muscle weakness	항상
Spinal muscle degeneration	항상
Double-Jointed	매우 자주 (80–99%)
Abnormality of the vertebral column	자주 (30–79%)
Funnel chest	자주 (30–79%)
Scoliosis	자주 (30–79%)
Spasticity and rigidity of muscles	자주 (30–79%)
Excessive inward curvature of lower spine	가끔 (5–29%)
Shield chest	가끔 (5–29%)
Spastic tetraparesis	드물게 (1–4%)

Abnormality of the ear

특성	나타나는 빈도
Abnormality of the cochlear nerve	항상
Chronic infections of the middle ear	항상
Hearing impairment	자주 (30–79%)
Low-set ears	자주 (30–79%)
Cupped ear	가끔 (5–29%)
Overfolded ears	가끔 (5–29%)
Prominent ear	가끔 (5–29%)
Simple ear	가끔 (5–29%)
Small earlobe	가끔 (5–29%)
Small ears	가끔 (5–29%)
Uplifted earlobe	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Constipation	항상
Poor swallowing	항상
Tube feeding	항상
Feeding difficulties	자주 (30–79%)
Inguinal hernia	자주 (30–79%)
Enlarged liver	가끔 (5–29%)
Omphalocele	가끔 (5–29%)

Abnormality of the respiratory system

특성	나타나는 빈도
Low blood oxygen level	항상
Neonatal respiratory distress	항상
Respiratory failure requiring assisted ventilation	항상
Upper airway obstruction	항상
Softening of voice box tissue	자주 (30–79%)
Floppy windpipe	가끔 (5–29%)

Abnormality of the cardiovascular system

특성	나타나는 빈도
An opening in the wall separating the top two chambers of the heart	자주 (30–79%)
Hole in heart wall separating two lower heart chambers	가끔 (5–29%)
Mitral regurgitation	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Narrow nail	항상
Soft skin	자주 (30–79%)
Absence of part of skin at birth	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Prenatal growth deficiency	항상
Faltering weight	자주 (30–79%)
Short stature	자주 (30–79%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Short penis	자주 (30–79%)
Undescended testes	자주 (30–79%)

Abnormal cellular phenotype

특성	나타나는 빈도
Decreased activity of mitochondrial complex IV	항상

Abnormality of the breast

특성	나타나는 빈도
Wide-spaced nipples	가끔 (5–29%)

Constitutional symptom

특성	나타나는 빈도
Impaired toileting ability	항상

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: AHDC1에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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