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

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Abnormal facial shape	Väga sageli (80–99%)
Almond shaped eyes	Sageli (30–79%)
Big calvaria	Sageli (30–79%)
Full cheeks	Sageli (30–79%)
Narrow forehead	Sageli (30–79%)
Upward slanting of the opening between the eyelids	Sageli (30–79%)
Broad forehead	Mõnikord (5–29%)
Bulbous nose	Mõnikord (5–29%)
Decreased salivary flow	Mõnikord (5–29%)
Depressed nasal bridge	Mõnikord (5–29%)
Downturned corners of mouth	Mõnikord (5–29%)
Little lower jaw	Mõnikord (5–29%)
Narrow nasal bridge	Mõnikord (5–29%)
Nasal tip, upturned	Mõnikord (5–29%)
Receding chin	Mõnikord (5–29%)
Thick eyebrow	Mõnikord (5–29%)
Thin red part of the upper lip	Mõnikord (5–29%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased activity of gonads	Väga sageli (80–99%)
Absence of pubertal development	Sageli (30–79%)
Hypogonadotropic hypogonadism	Sageli (30–79%)
Hypothalamic luteinizing hormone-releasing hormone deficiency	Sageli (30–79%)
Small pituitary gland	Sageli (30–79%)
Central hypothyroidism	Mõnikord (5–29%)
Early onset of puberty	Mõnikord (5–29%)
Premature adrenarche	Mõnikord (5–29%)
Premature pubic hair growth	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Infertility	Väga sageli (80–99%)
Undescended testes	Väga sageli (80–99%)
Decreased testicular size	Sageli (30–79%)
Primary amenorrhea	Sageli (30–79%)
Small clitoris	Sageli (30–79%)
Smaller than typical growth of scrotum	Sageli (30–79%)
Underdeveloped inner lips	Sageli (30–79%)
Underdevelopment of external reproductive organs	Sageli (30–79%)
Short penis	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Decreased muscle tone in infant	Väga sageli (80–99%)
Low muscle tone, in neonatal onset	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal formation of the hip	Mõnikord (5–29%)
Abnormality of the chest	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Osteoporosis	Mõnikord (5–29%)
Low muscle tone	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Hyperinsulinemia	Väga sageli (80–99%)
Vitamin B1 deficiency	Väga sageli (80–99%)
Glucose intolerance	Mõnikord (5–29%)
Noninsulin-dependent diabetes	Mõnikord (5–29%)
Increased resting energy expenditure	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Short foot	Sageli (30–79%)
Small hand	Sageli (30–79%)
Long foot	Mõnikord (5–29%)
Tapered finger	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Obesity	Väga sageli (80–99%)
Abdominal obesity	Sageli (30–79%)
Faltering weight	Sageli (30–79%)
Short stature	Pole registreeritud

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Nasogastric tube feeding	Sageli (30–79%)
Poor suck	Sageli (30–79%)
Feeding difficulties	Pole registreeritud

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Abnormal ear morphology	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Small ears	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Cross-eyed	Sageli (30–79%)
Abnormality of the eye	Mõnikord (5–29%)
Chorioretinal hypopigmentation	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Low blood pressure	Väga sageli (80–99%)
Postural hypotension with compensatory tachycardia	Väga sageli (80–99%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Loss of hair color	Mõnikord (5–29%)
Patchy lightened skin	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Recurrent respiratory infections	Mõnikord (5–29%)

Abnormality of the voice

Trait	Kui sageli seda täheldatakse
Weak cry	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test