Kjennetegn

Kjennetegn knyttet til AHDC1

AT-hook DNA binding motif containing 1

Human Phenotype Ontology knytter 194 kjennetegn til AHDC1, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

AHDC1

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Abnormal rhythmic movements of ankle	Alltid
Dislocated hip since birth	Alltid
Short fingers or toes	Alltid
Tapered finger	Svært ofte (80–99 %)
Curvature of digit	Ofte (30–79 %)
High-arched foot	Ofte (30–79 %)
Short foot	Ofte (30–79 %)
Single transverse palmar crease	Ofte (30–79 %)
Small hand	Ofte (30–79 %)
Club feet	Noen ganger (5–29 %)
Curvature of little finger	Noen ganger (5–29 %)
Dropped arches	Noen ganger (5–29 %)
Positional foot deformity	Noen ganger (5–29 %)
Prominent fingertip pads	Noen ganger (5–29 %)
Recurrent patellar dislocation	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Astigmatism	Alltid
Involuntary, rapid, rhythmic eye movements	Alltid
Lazy eye	Alltid
Macular dystrophy	Alltid
Cross-eyed	Ofte (30–79 %)
Drooping upper eyelid	Ofte (30–79 %)
Farsightedness	Ofte (30–79 %)
Inward turning cross eyed	Ofte (30–79 %)
Outward facing eye ball	Ofte (30–79 %)
Upbeat nystagmus	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)
Bulging eye	Noen ganger (5–29 %)
Cerebral visual impairment	Noen ganger (5–29 %)
Deeply set eye	Noen ganger (5–29 %)
Mild myopia	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Abnormal curve of the backbone	Alltid
Low muscle tone	Alltid
Poor head control	Alltid
Progressive muscle weakness	Alltid
Spinal muscle degeneration	Alltid
Double-Jointed	Svært ofte (80–99 %)
Abnormality of the vertebral column	Ofte (30–79 %)
Funnel chest	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Spasticity and rigidity of muscles	Ofte (30–79 %)
Excessive inward curvature of lower spine	Noen ganger (5–29 %)
Shield chest	Noen ganger (5–29 %)
Spastic tetraparesis	Sjelden (1–4%)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Abnormality of the cochlear nerve	Alltid
Chronic infections of the middle ear	Alltid
Hearing impairment	Ofte (30–79 %)
Low-set ears	Ofte (30–79 %)
Cupped ear	Noen ganger (5–29 %)
Overfolded ears	Noen ganger (5–29 %)
Prominent ear	Noen ganger (5–29 %)
Simple ear	Noen ganger (5–29 %)
Small earlobe	Noen ganger (5–29 %)
Small ears	Noen ganger (5–29 %)
Uplifted earlobe	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Constipation	Alltid
Poor swallowing	Alltid
Tube feeding	Alltid
Feeding difficulties	Ofte (30–79 %)
Inguinal hernia	Ofte (30–79 %)
Enlarged liver	Noen ganger (5–29 %)
Omphalocele	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Low blood oxygen level	Alltid
Neonatal respiratory distress	Alltid
Respiratory failure requiring assisted ventilation	Alltid
Upper airway obstruction	Alltid
Softening of voice box tissue	Ofte (30–79 %)
Floppy windpipe	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
An opening in the wall separating the top two chambers of the heart	Ofte (30–79 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)
Mitral regurgitation	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Narrow nail	Alltid
Soft skin	Ofte (30–79 %)
Absence of part of skin at birth	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Prenatal growth deficiency	Alltid
Faltering weight	Ofte (30–79 %)
Short stature	Ofte (30–79 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Short penis	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Decreased activity of mitochondrial complex IV	Alltid

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Wide-spaced nipples	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Impaired toileting ability	Alltid

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til AHDC1 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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