Traits

Traits linked to SIM1

SIM bHLH transcription factor 1

The Human Phenotype Ontology links 98 traits to SIM1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormal autonomic nervous system physiology	Foarte des (80–99%)
Cognitive impairment	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Increased appetite	Foarte des (80–99%)
Motor delay	Foarte des (80–99%)
Abnormal temper tantrums	Des (30–79%)
Attention deficit	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Brain imaging abnormality	Des (30–79%)
Diminished deep tendon reflex	Des (30–79%)
Intellectual disability	Des (30–79%)
Memory impairment	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Skin-picking	Des (30–79%)
Specific learning disability	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Abnormal rapid eye movement sleep	Uneori (5–29%)
Central sleep apnea	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Impaired temperature sensation	Uneori (5–29%)
Incoordination	Uneori (5–29%)
Lethargy	Uneori (5–29%)
Obstructive sleep apnea	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Wide based walk	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormal facial shape	Foarte des (80–99%)
Almond shaped eyes	Des (30–79%)
Big calvaria	Des (30–79%)
Full cheeks	Des (30–79%)
Narrow forehead	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Broad forehead	Uneori (5–29%)
Bulbous nose	Uneori (5–29%)
Decreased salivary flow	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Narrow nasal bridge	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Thick eyebrow	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Decreased activity of gonads	Foarte des (80–99%)
Absence of pubertal development	Des (30–79%)
Hypogonadotropic hypogonadism	Des (30–79%)
Hypothalamic luteinizing hormone-releasing hormone deficiency	Des (30–79%)
Small pituitary gland	Des (30–79%)
Central hypothyroidism	Uneori (5–29%)
Early onset of puberty	Uneori (5–29%)
Premature adrenarche	Uneori (5–29%)
Premature pubic hair growth	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Infertility	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Decreased testicular size	Des (30–79%)
Primary amenorrhea	Des (30–79%)
Small clitoris	Des (30–79%)
Smaller than typical growth of scrotum	Des (30–79%)
Underdeveloped inner lips	Des (30–79%)
Underdevelopment of external reproductive organs	Des (30–79%)
Short penis	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Decreased muscle tone in infant	Foarte des (80–99%)
Low muscle tone, in neonatal onset	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Abnormality of the chest	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)
Low muscle tone	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Hyperinsulinemia	Foarte des (80–99%)
Vitamin B1 deficiency	Foarte des (80–99%)
Glucose intolerance	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)
Increased resting energy expenditure	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Short foot	Des (30–79%)
Small hand	Des (30–79%)
Long foot	Uneori (5–29%)
Tapered finger	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Obesity	Foarte des (80–99%)
Abdominal obesity	Des (30–79%)
Faltering weight	Des (30–79%)
Short stature	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Nasogastric tube feeding	Des (30–79%)
Poor suck	Des (30–79%)
Feeding difficulties	Neînregistrat

Abnormality of the ear

Trait	Cât de frecvent apare
Abnormal ear morphology	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Small ears	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Abnormality of the eye	Uneori (5–29%)
Chorioretinal hypopigmentation	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Low blood pressure	Foarte des (80–99%)
Postural hypotension with compensatory tachycardia	Foarte des (80–99%)

Abnormality of the integument

Trait	Cât de frecvent apare
Loss of hair color	Uneori (5–29%)
Patchy lightened skin	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Recurrent respiratory infections	Uneori (5–29%)

Abnormality of the voice

Trait	Cât de frecvent apare
Weak cry	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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SIM1 and how often each is seen. Find out more at hpo.jax.org.

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