Trăsături

Trăsături asociate cu SIX3

SIX homeobox 3

Human Phenotype Ontology asociază 137 trăsături cu SIX3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SIX3

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Abnormal central motor function	Des (30–79%)
Abnormal corpus callosum morphology	Des (30–79%)
Abnormal morphology of the olfactory bulb	Des (30–79%)
Abnormal shape of brainstem	Des (30–79%)
Abnormal shape of midbrain	Des (30–79%)
Abnormality of the autonomic nervous system	Des (30–79%)
Absent speech development	Des (30–79%)
Alobar holoprosencephaly	Des (30–79%)
Anxiety	Des (30–79%)
Aplasia of the falx cerebri	Des (30–79%)
Attention deficit	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Communication delay	Des (30–79%)
Depression	Des (30–79%)
Epilepsy	Des (30–79%)
Impulsivity	Des (30–79%)
Inability to walk	Des (30–79%)
Intellectual disability	Des (30–79%)
Irritability	Des (30–79%)
Lack of feeling, emotion, interest	Des (30–79%)
Lethargy	Des (30–79%)
Limb dystonia	Des (30–79%)
Neural tube defect	Des (30–79%)
Oromotor apraxia	Des (30–79%)
Poor speech	Des (30–79%)
Short attention span	Des (30–79%)
Sleep-wake cycle disturbance	Des (30–79%)
Specific learning disability	Des (30–79%)
Abnormal septum pellucidum morphology	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Enlarged brain	Uneori (5–29%)
Holoprosencephaly	Uneori (5–29%)
Hypoplasia of the pons	Uneori (5–29%)
Perisylvian polymicrogyria	Uneori (5–29%)
Rhombencephalosynapsis	Uneori (5–29%)
Semilobar holoprosencephaly	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Neînregistrat
Schizencephaly	Neînregistrat
Small cerebellum	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Blockage of the rear opening of the nasal cavity	Foarte des (80–99%)
Midnasal stenosis	Foarte des (80–99%)
Only one upper front tooth	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Bifid uvula	Des (30–79%)
Both sided cleft lip	Des (30–79%)
Central cleft upper lip	Des (30–79%)
Cleft palate	Des (30–79%)
Flat nose	Des (30–79%)
High palate	Des (30–79%)
Narrow nasal bridge	Des (30–79%)
Right and left cleft palate	Des (30–79%)
Short philtrum	Des (30–79%)
Tented mouth	Des (30–79%)
Absence of the intermaxillary bone	Uneori (5–29%)
Absence of the nasal bone	Uneori (5–29%)
Big calvaria	Uneori (5–29%)
Cleft of the mouth	Uneori (5–29%)
Frontoethmoidal encephalocele	Uneori (5–29%)
Midface retrusion	Uneori (5–29%)
Mono nostril	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Proboscis	Uneori (5–29%)
Short nose	Uneori (5–29%)
Absent nasal septal cartilage	Neînregistrat
Central cleft palate	Neînregistrat
Submucous cleft hard palate	Neînregistrat
Zygomatic flattening	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormal hypothalamus physiology	Des (30–79%)
Abnormality of the endocrine system	Des (30–79%)
Anterior hypopituitarism	Des (30–79%)
Central diabetes insipidus	Des (30–79%)
Diabetes insipidus	Des (30–79%)
Early onset of puberty	Des (30–79%)
Central hypothyroidism	Uneori (5–29%)
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Panhypopituitarism	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)
Absent pituitary gland	Neînregistrat
Small adrenal glands	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal vertebral morphology	Des (30–79%)
Abnormality of the ribs	Des (30–79%)
Decreased muscle tone in infant	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Abnormality of the skeletal system	Uneori (5–29%)
EMG: myopathic abnormalities	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Low muscle tone in trunk	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Low muscle tone	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Foarte des (80–99%)
Poor suck	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Poor swallowing	Des (30–79%)
Vomiting	Des (30–79%)
Abnormal shape of the digestive system	Uneori (5–29%)
Absence or narrowing of first part of small bowel	Uneori (5–29%)
Anteriorly placed anus	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally close eyes	Întotdeauna
Abnormality of the eye	Foarte des (80–99%)
Bulging eye	Des (30–79%)
Cerebral visual impairment	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Cyclops eye	Uneori (5–29%)
Remnants of the hyaloid vascular system	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormal heart rate variability	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Strawberry mark	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)
Single ventricle	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the genitourinary system	Uneori (5–29%)
Absent kidney	Uneori (5–29%)
Ambiguous external genitalia	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Growth delay	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Prenatal growth deficiency	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal pattern of respiration	Des (30–79%)
Central apnea	Des (30–79%)
Chronic lung disease	Des (30–79%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of limbs	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Aspiration pneumonia	Des (30–79%)
Asthma	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Premature birth	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Temperature instability	Des (30–79%)

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 SIX3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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