Traits

Traits linked to SLC35D1

solute carrier family 35 member D1

The Human Phenotype Ontology links 44 traits to SLC35D1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flattened vertebrae	Always
Hook-shaped collarbone	Always
Narrow chest	Always
Narrow vertebral interpedicular distance	Always
Ovoid vertebral bodies	Always
Short long bone	Always
Small chest	Always
Snail-like ilia	Always
Abnormal vertebral body morphology	Very often (80–99%)
Short ribs	Very often (80–99%)
Small shoulder blade	Very often (80–99%)
Small wings of the pelvic girdle	Very often (80–99%)
Underdeveloped back bones	Very often (80–99%)
Advanced bone age	Sometimes (5–29%)
Anterior rib cupping	Not recorded

Abnormality of limbs

Trait	How often it is seen
Flat acetabular roof	Always
Limb undergrowth	Always
Abnormality of the wide portion of a long bone	Very often (80–99%)
Short calf bone	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Wide calf bone	Very often (80–99%)
Club foot on both sides	Often (30–79%)
Accelerated ankle bone maturation	Sometimes (5–29%)
Dumbbell-shaped long bone	Sometimes (5–29%)
Thickening of shaft or central part of long bones	Sometimes (5–29%)
Accelerated wrist bone maturation	Not recorded
Irregular wide portion of a long bone	Not recorded
Short fingers or toes	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Midface retrusion	Always
Big calvaria	Very often (80–99%)
Short neck	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Long, narrow head	Often (30–79%)
Short nose	Often (30–79%)
Cleft palate	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Belly sticks out	Always
Umbilical hernia	Always

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Often (30–79%)
Underdeveloped toenails	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Nonimmune hydrops fetalis	Always
Swelling caused by excess lymph fluid under skin	Very often (80–99%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	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 SLC35D1 and how often each is seen. Find out more at hpo.jax.org.

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