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Mulibrey nanism

MONDO:0009664

A prenatal onset growth disorder with multiorgan manifestations.

Also known as: MUL, Perheentupa syndrome, mulibrey dwarfism, mulibrey nanism, muscle-liver-brain-eye nanism, pericardial constriction and growth failure, pericardial constriction-growth failure syndrome, pericardial constriction and Growth failure

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14) Autosomal recessive disease (4) Disease of genetic or genomic mechanism (2) Peroxisomal disease (2) Autosomal genetic disease (0)
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  • New diagnostic strategy aims to end diagnostic odyssey for rare diseases

    Diagnosis Completed

    This study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…

    Sponsor: University Hospital, Lille • Aim: Diagnosis

    Last updated Jun 27, 2026 08:02 UTC

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