Traits

Traits linked to MAF

MAF bZIP transcription factor

The Human Phenotype Ontology links 93 traits to MAF, 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
Midface retrusion	Always
Flat face	Very often (80–99%)
Short nose	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Asymmetric crying face	Often (30–79%)
Asymmetry of the posterior head	Often (30–79%)
Broad eyebrow	Often (30–79%)
Broad head shape	Often (30–79%)
Cleft palate	Often (30–79%)
Decreased depth of eye sockets	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Failure of development of more than six teeth	Often (30–79%)
High forehead	Often (30–79%)
Long philtrum	Often (30–79%)
Narrow mouth	Often (30–79%)
Prominent metopic ridge	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wide fontanelles	Often (30–79%)
Abnormality of craniofacial shape	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Delayed cranial suture closure	Sometimes (5–29%)
J-shaped sella turcica	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Broad philtrum	Not recorded
Smooth philtrum	Not recorded
Wide nasal bridge	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Very often (80–99%)
Clouding of the lens of the eye at birth	Very often (80–99%)
Cornea of eye less than 10mm in diameter	Very often (80–99%)
Close sighted	Often (30–79%)
Cortical pulverulent cataract	Often (30–79%)
Drooping of both upper eyelids	Often (30–79%)
Visual impairment	Often (30–79%)
Wide-set eyes	Often (30–79%)
Cat eye	Sometimes (5–29%)
Corneal dystrophy	Sometimes (5–29%)
Corneal opacity	Sometimes (5–29%)
Enlarged cornea	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Macular hypoplasia	Sometimes (5–29%)
Peters anomaly	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Severe near sightedness	Sometimes (5–29%)
Cerulean cataract	Not recorded
Drooping upper eyelid	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Epilepsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Chiari type I malformation	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
EEG abnormality	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Degeneration of cerebrum	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Limitation of joint mobility	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Abnormality of the chest	Sometimes (5–29%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Extra ribs	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Very often (80–99%)
Curvature of little finger	Often (30–79%)
Rocker bottom foot	Often (30–79%)
Tapered finger	Often (30–79%)
Fused forearm bones	Sometimes (5–29%)
Reduced arm span	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Small ears	Often (30–79%)
Narrow ear canal	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swelling or irritation of membrane around heart	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Fluid around heart	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	Very often (80–99%)
Short stature	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Underdeveloped breasts	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)

Abnormality of the genitourinary system

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

Abnormality of the integument

Trait	How often it is seen
Poor nail formation	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Sometimes (5–29%)

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

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