Traits

Traits linked to SMARCD1

SWI/SNF related BAF chromatin remodeling complex subunit D1

The Human Phenotype Ontology links 84 traits to SMARCD1, by body system: features seen in people with one of the gene's rare conditions.

SMARCD1

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Very often (80–99%)
Full lower lip	Very often (80–99%)
Prominent eyelashes	Very often (80–99%)
Thick eyebrow	Very often (80–99%)
Wide mouth	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Broad nasal tip	Often (30–79%)
Broad philtrum	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
High palate	Often (30–79%)
Low frontal hairline	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Recurrent colds	Often (30–79%)
Short nose	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Thick nasal alae	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Wide nasal base	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Cleft soft palate	Sometimes (5–29%)
Dandy-Walker malformation	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Prominent metopic ridge	Sometimes (5–29%)
Abnormally small head	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Delayed ability to walk	Very often (80–99%)
Behavioral abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Oral aversion	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Double-Jointed	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Hernia	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Visual impairment	Often (30–79%)
Close sighted	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Very often (80–99%)
Small nail	Very often (80–99%)
Excessive hairiness	Often (30–79%)
Small fifth toenail	Often (30–79%)
Underdeveloped fifth fingernail	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Always
Feeding difficulties	Very often (80–99%)
Birth defect in which part of esophagus did not develop	Sometimes (5–29%)
Hepatoblastoma	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the genitourinary system	Often (30–79%)
Undescended testes	Often (30–79%)
Horseshoe kidney	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Often (30–79%)
Short 5th finger	Often (30–79%)
Small hand	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Growth delay as children	Often (30–79%)
Prenatal growth deficiency	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Uplifted earlobe	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	Often (30–79%)
Recurrent infections	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Papillary thyroid carcinoma	Rarely (1–4%)

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 SMARCD1 and how often each is seen. Find out more at hpo.jax.org.

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