Traits

Traits linked to FGD1

FYVE, RhoGEF and PH domain containing 1

The Human Phenotype Ontology links 91 traits to FGD1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Broad philtrum	Always
High palate	Always
Little lower jaw	Always
Pointed chin	Always
Round face	Always
Short neck	Always
Wide nasal bridge	Always
Drooping lower lip	Very often (80–99%)
Long philtrum	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Short nose	Very often (80–99%)
Abnormally small head	Often (30–79%)
Broad forehead	Often (30–79%)
Curved linear dimple below the lower lip	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Frontal bossing	Often (30–79%)
High frontal hairline	Often (30–79%)
Midface retrusion	Often (30–79%)
Relatively large head	Often (30–79%)
Widow's peak	Often (30–79%)
Abnormal dentition	Sometimes (5–29%)
Bad bite	Sometimes (5–29%)
Cleft of the mouth	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Cleft upper lip	Sometimes (5–29%)
Decreased size of maxilla	Sometimes (5–29%)
Delayed eruption of teeth	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)
Failure of development of between one and six teeth	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad palm	Always
Dropped arches	Always
Short fingers or toes	Always
Short palm	Always
Broad foot	Very often (80–99%)
Permanent flexion of the finger	Very often (80–99%)
Short foot	Very often (80–99%)
Small hand	Very often (80–99%)
Curvature of little finger	Often (30–79%)
Finger syndactyly	Often (30–79%)
Front half of foot turns inward	Often (30–79%)
Short 5th finger	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Back knee	Sometimes (5–29%)
Finger joint hyperextensibility	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Radial deviation of finger	Not recorded
Webbed fingers or toes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Delayed bone maturation	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Abnormal cervical spine	Sometimes (5–29%)
Abnormal vertebral segmentation and fusion	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Cervical spine hypermobility	Not recorded
Hypoplasia of the odontoid process	Not recorded
Scoliosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always
Drooping upper eyelid	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Enlarged cornea	Sometimes (5–29%)
Farsightedness	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Always
Scrotum surrounds penis	Always
Testicular degeneration	Always
Undescended testes	Often (30–79%)
Hypospadias	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Cognitive impairment	Often (30–79%)
Global developmental delay	Often (30–79%)
Attention deficit	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Intellectual disability, mild	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Obesity	Often (30–79%)
Faltering weight	Not recorded
Increased upper to lower segment ratio	Not recorded
Mild short stature	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Umbilical hernia	Very often (80–99%)
Inguinal hernia	Often (30–79%)
Lozenge-shaped umbilicus	Often (30–79%)
Prominent belly button	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum testosterone level	Always
Elevated circulating follicle stimulating hormone level	Always
Elevated circulating luteinizing hormone level	Always
Delayed puberty	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Large earlobe	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hyperelastic skin	Often (30–79%)

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 FGD1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test