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	How often it is seen
2-5 finger cutaneous syndactyly	Always
Absent middle bone of index finger	Always
Absent middle bone of middle finger	Always
Absent of the outermost bone of the middle finger	Always
Absent outermost index finger bone	Always
Absent toe	Always
Finger syndactyly	Always
Single transverse palmar crease	Always
Webbed 4th-5th toes	Always
Webbed fingers or toes	Always
Long fingers	Very often (80–99%)
Long toe	Very often (80–99%)
Aplasia/hypoplasia involving bones of the extremities	Often (30–79%)
Shortened long bone of hand	Often (30–79%)
Amelia	Sometimes (5–29%)
Dislocated hip since birth	Sometimes (5–29%)
Oligodactyly	Sometimes (5–29%)
More than five fingers or toes on hands or feet	Rarely (1–4%)
Abnormality of fingers or toes	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Always
Abnormally small head	Very often (80–99%)
Almond shaped eyes	Very often (80–99%)
Dental crowding	Very often (80–99%)
Eye folds	Very often (80–99%)
High palate	Very often (80–99%)
Long face	Very often (80–99%)
Narrow face	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Small retruded chin	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Hair loss on scalp from scarring condition	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Cleft upper lip	Not recorded
Receding chin	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Excessive inward curvature of lower spine	Very often (80–99%)
Kyphoscoliosis	Very often (80–99%)
Speckled calcifications in end part of bone	Very often (80–99%)
Double-Jointed	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Hypoplastic pelvis	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Multiple joint contractures	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Short collarbone	Sometimes (5–29%)
Short ribs	Sometimes (5–29%)
Small shoulder blade	Sometimes (5–29%)
Underdeveloped vertebrae	Sometimes (5–29%)
Abnormal cortical bone morphology	Not recorded
Hunched back	Not recorded
Prominent swayback	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal cerebral cortex morphology	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Difficulty finding words	Very often (80–99%)
Difficulty sleeping	Very often (80–99%)
Epilepsy	Very often (80–99%)
Fewer and broader ridges in brain	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Irritability	Very often (80–99%)
More grooves in brain	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Behavioral abnormality	Often (30–79%)
More active than typical	Often (30–79%)
Absent/underdeveloped central nervous system tissue	Sometimes (5–29%)
Morphological central nervous system abnormality	Sometimes (5–29%)
Intellectual disability, mild	Not recorded

Abnormality of the integument

Trait	How often it is seen
Congenital ichthyosiform erythroderma	Always
Hyperkeratosis	Always
Orthokeratosis	Always
Small nail	Always
Abnormal periungual morphology	Often (30–79%)
Congenital malformed nails	Often (30–79%)
Epidermal nevus	Often (30–79%)
Mole	Often (30–79%)
Parakeratosis	Often (30–79%)
Thickening of upper layer of skin	Often (30–79%)
Verruciform xanthoma	Often (30–79%)
Hair loss	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Always
Abnormality of the heart	Sometimes (5–29%)
Foam cells	Sometimes (5–29%)
Abnormal cardiac septum morphology	Not recorded
Single ventricle	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Always
Absent kidney	Rarely (1–4%)
Hydronephrosis	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Slender build	Very often (80–99%)
Short stature	Sometimes (5–29%)
Mild intrauterine growth retardation	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated 8-dehydrocholesterol	Sometimes (5–29%)
Elevated 8(9)-cholestenol	Sometimes (5–29%)
Abnormality of cholesterol metabolism	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Hearing impairment	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Small adrenal glands	Sometimes (5–29%)
Small thyroid gland	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Umbilical hernia	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Lack of energy and strength	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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