Traits

Traits linked to MAMLD1

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The Human Phenotype Ontology links 28 traits to MAMLD1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Penoscrotal hypospadias	Always
Displacement of the urethral meatus	Very often (80–99%)
Blind vagina	Often (30–79%)
Cleft of scrotum	Often (30–79%)
Glanular hypospadias	Often (30–79%)
Penile hypospadias	Often (30–79%)
Short penis	Often (30–79%)
Undescended testes	Often (30–79%)
Ventral shortening of foreskin	Often (30–79%)
Urethral diverticulum	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Sometimes (5–29%)
Birth defect in which part of esophagus did not develop	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Very often (80–99%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Thin ribs	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the endocrine system	Sometimes (5–29%)
Androgen insufficiency	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Sometimes (5–29%)
Depression	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Small for gestational age	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 MAMLD1 and how often each is seen. Find out more at hpo.jax.org.

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