Traits

Traits linked to AHDC1

AT-hook DNA binding motif containing 1

The Human Phenotype Ontology links 194 traits to AHDC1, by body system: features seen in people with one of the gene's rare conditions.

AHDC1

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of limbs

Trait	How often it is seen
Abnormal rhythmic movements of ankle	Always
Dislocated hip since birth	Always
Short fingers or toes	Always
Tapered finger	Very often (80–99%)
Curvature of digit	Often (30–79%)
High-arched foot	Often (30–79%)
Short foot	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Small hand	Often (30–79%)
Club feet	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Positional foot deformity	Sometimes (5–29%)
Prominent fingertip pads	Sometimes (5–29%)
Recurrent patellar dislocation	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Always
Involuntary, rapid, rhythmic eye movements	Always
Lazy eye	Always
Macular dystrophy	Always
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Farsightedness	Often (30–79%)
Inward turning cross eyed	Often (30–79%)
Outward facing eye ball	Often (30–79%)
Upbeat nystagmus	Often (30–79%)
Wide-set eyes	Often (30–79%)
Bulging eye	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Mild myopia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal curve of the backbone	Always
Low muscle tone	Always
Poor head control	Always
Progressive muscle weakness	Always
Spinal muscle degeneration	Always
Double-Jointed	Very often (80–99%)
Abnormality of the vertebral column	Often (30–79%)
Funnel chest	Often (30–79%)
Scoliosis	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Excessive inward curvature of lower spine	Sometimes (5–29%)
Shield chest	Sometimes (5–29%)
Spastic tetraparesis	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Abnormality of the cochlear nerve	Always
Chronic infections of the middle ear	Always
Hearing impairment	Often (30–79%)
Low-set ears	Often (30–79%)
Cupped ear	Sometimes (5–29%)
Overfolded ears	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)
Simple ear	Sometimes (5–29%)
Small earlobe	Sometimes (5–29%)
Small ears	Sometimes (5–29%)
Uplifted earlobe	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Always
Poor swallowing	Always
Tube feeding	Always
Feeding difficulties	Often (30–79%)
Inguinal hernia	Often (30–79%)
Enlarged liver	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Low blood oxygen level	Always
Neonatal respiratory distress	Always
Respiratory failure requiring assisted ventilation	Always
Upper airway obstruction	Always
Softening of voice box tissue	Often (30–79%)
Floppy windpipe	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Narrow nail	Always
Soft skin	Often (30–79%)
Absence of part of skin at birth	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Faltering weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Often (30–79%)
Undescended testes	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex IV	Always

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Impaired toileting ability	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to AHDC1 and how often each is seen. Find out more at hpo.jax.org.

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