Traits

Traits linked to PPM1B

protein phosphatase, Mg2+/Mn2+ dependent 1B

The Human Phenotype Ontology links 19 traits to PPM1B, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
High urine cystine levels	Very often (80–99%)
Increased lactate in body	Often (30–79%)
Low blood calcium levels	Often (30–79%)
Low blood sugar	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Long eyelashes	Very often (80–99%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Very often (80–99%)
IQ between 34 and 49	Very often (80–99%)
Epilepsy	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Growth delay	Very often (80–99%)

Abnormal cellular phenotype

Trait	How often it is seen
Mitochondrial respiratory chain defects	Very often (80–99%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney stone	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	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 PPM1B and how often each is seen. Find out more at hpo.jax.org.

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