Traits

Traits linked to BTD

biotinidase

The Human Phenotype Ontology links 49 traits to BTD, 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
Abnormality of the nervous system	Des (30–79%)
Ataxia	Des (30–79%)
Brain imaging abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Global developmental delay	Des (30–79%)
Focal motor seizure	Uneori (5–29%)
Generalized myoclonic seizure	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Lethargy	Uneori (5–29%)
Myelopathy	Uneori (5–29%)
Diffuse cerebellar atrophy	Neînregistrat
Diffuse cerebral atrophy	Neînregistrat

Abnormality of the immune system

Trait	Cât de frecvent apare
Abnormality of the immune system	Des (30–79%)
Skin rash	Des (30–79%)
Eczema	Uneori (5–29%)
Recurrent Candida infection	Uneori (5–29%)
Recurrent fungal infections	Uneori (5–29%)
Recurrent viral infections	Uneori (5–29%)
Recurrent skin infections	Neînregistrat
Seborrheic dermatitis	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Optic atrophy	Des (30–79%)
Abnormality of the eye	Uneori (5–29%)
Blind spot	Uneori (5–29%)
Damaged optic nerve	Uneori (5–29%)
Nonprogressive visual loss	Uneori (5–29%)
Visual loss	Neînregistrat

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Apnea	Uneori (5–29%)
Breathing difficulties	Uneori (5–29%)
Increased respiratory rate or depth of breathing	Uneori (5–29%)
Laryngeal stridor	Uneori (5–29%)
Rapid breathing	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Diarrhea	Neînregistrat
Enlarged liver	Neînregistrat
Feeding difficulties in infancy	Neînregistrat
Vomiting	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Decreased circulating biotinidase concentration	Foarte des (80–99%)
Metabolic ketoacidosis	Foarte des (80–99%)
Organic aciduria	Foarte des (80–99%)
High blood ammonia levels	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Sensorineural hearing impairment	Des (30–79%)
Hearing impairment	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Spastic paraparesis	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Pink eye	Des (30–79%)

Abnormality of limbs

Trait	Cât de frecvent apare
Limb muscle weakness	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Increased spleen size	Neînregistrat

Abnormality of the integument

Trait	Cât de frecvent apare
Hair loss	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 BTD and how often each is seen. Find out more at hpo.jax.org.

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