Traits

Traits linked to NSDHL

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

The Human Phenotype Ontology links 101 traits to NSDHL, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	Cât de frecvent apare
2-5 finger cutaneous syndactyly	Întotdeauna
Absent middle bone of index finger	Întotdeauna
Absent middle bone of middle finger	Întotdeauna
Absent of the outermost bone of the middle finger	Întotdeauna
Absent outermost index finger bone	Întotdeauna
Absent toe	Întotdeauna
Finger syndactyly	Întotdeauna
Single transverse palmar crease	Întotdeauna
Webbed 4th-5th toes	Întotdeauna
Webbed fingers or toes	Întotdeauna
Long fingers	Foarte des (80–99%)
Long toe	Foarte des (80–99%)
Aplasia/hypoplasia involving bones of the extremities	Des (30–79%)
Shortened long bone of hand	Des (30–79%)
Amelia	Uneori (5–29%)
Dislocated hip since birth	Uneori (5–29%)
Oligodactyly	Uneori (5–29%)
More than five fingers or toes on hands or feet	Rar (1–4%)
Abnormality of fingers or toes	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Depressed nasal bridge	Întotdeauna
Abnormally small head	Foarte des (80–99%)
Almond shaped eyes	Foarte des (80–99%)
Dental crowding	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Long face	Foarte des (80–99%)
Narrow face	Foarte des (80–99%)
Prominent nasal bridge	Foarte des (80–99%)
Small retruded chin	Foarte des (80–99%)
Upward slanting of the opening between the eyelids	Foarte des (80–99%)
Zygomatic flattening	Foarte des (80–99%)
Hair loss on scalp from scarring condition	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Cleft upper lip	Neînregistrat
Receding chin	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Excessive inward curvature of lower spine	Foarte des (80–99%)
Kyphoscoliosis	Foarte des (80–99%)
Speckled calcifications in end part of bone	Foarte des (80–99%)
Double-Jointed	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Hypoplastic pelvis	Des (30–79%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Multiple joint contractures	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Short collarbone	Uneori (5–29%)
Short ribs	Uneori (5–29%)
Small shoulder blade	Uneori (5–29%)
Underdeveloped vertebrae	Uneori (5–29%)
Abnormal cortical bone morphology	Neînregistrat
Hunched back	Neînregistrat
Prominent swayback	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormal cerebral cortex morphology	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
Difficulty finding words	Foarte des (80–99%)
Difficulty sleeping	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Fewer and broader ridges in brain	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Irritability	Foarte des (80–99%)
More grooves in brain	Foarte des (80–99%)
Aggressive behavior	Des (30–79%)
Behavioral abnormality	Des (30–79%)
More active than typical	Des (30–79%)
Absent/underdeveloped central nervous system tissue	Uneori (5–29%)
Morphological central nervous system abnormality	Uneori (5–29%)
Intellectual disability, mild	Neînregistrat

Abnormality of the integument

Trait	Cât de frecvent apare
Congenital ichthyosiform erythroderma	Întotdeauna
Hyperkeratosis	Întotdeauna
Orthokeratosis	Întotdeauna
Small nail	Întotdeauna
Abnormal periungual morphology	Des (30–79%)
Congenital malformed nails	Des (30–79%)
Epidermal nevus	Des (30–79%)
Mole	Des (30–79%)
Parakeratosis	Des (30–79%)
Thickening of upper layer of skin	Des (30–79%)
Verruciform xanthoma	Des (30–79%)
Hair loss	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Redness of skin or mucous membrane	Întotdeauna
Abnormality of the heart	Uneori (5–29%)
Foam cells	Uneori (5–29%)
Abnormal cardiac septum morphology	Neînregistrat
Single ventricle	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Absent kidney on one side	Întotdeauna
Absent kidney	Rar (1–4%)
Hydronephrosis	Rar (1–4%)

Growth abnormality

Trait	Cât de frecvent apare
Slender build	Foarte des (80–99%)
Short stature	Uneori (5–29%)
Mild intrauterine growth retardation	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Elevated 8-dehydrocholesterol	Uneori (5–29%)
Elevated 8(9)-cholestenol	Uneori (5–29%)
Abnormality of cholesterol metabolism	Neînregistrat

Abnormality of the ear

Trait	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Hearing impairment	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Small adrenal glands	Uneori (5–29%)
Small thyroid gland	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Umbilical hernia	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Cross-eyed	Foarte des (80–99%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Poorly developed lungs	Uneori (5–29%)

Constitutional symptom

Trait	Cât de frecvent apare
Lack of energy and strength	Foarte des (80–99%)

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 NSDHL and how often each is seen. Find out more at hpo.jax.org.

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