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intellectual disability, Wolff type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, Wolff type

MONDO:0010203

Also known as:Wolff-Zimmermann syndromeWOLFF intellectual disability syndromeWOLFF mental retardation syndrome

Overview

Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.

Clinical Presentation

Features include: Intellectual disability.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Intellectual disability

Explore clinical features

Diagnosis

Biomarker and diagnostic research for intellectual disability, Wolff type has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual disability, Wolff type.

141 publications have been identified in PubMed for intellectual disability, Wolff type. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Research summaries	90	64%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:277990

Orphanet

European rare disease database

Orphanet:3080

GARD

Genetic and Rare Diseases Info Center

GARD:3530

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

intellectual disability, Wolff type

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Heterozygous loss-of-function variant in METTL5 is associated with intellectual disability.

Intellectual disability-causing mutations in KIF11 impair microtubule dynamics and dendritic arborization.

Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly.

Use of paracetamol during pregnancy unchanged in the EU

intellectual disability, Wolff type

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Heterozygous loss-of-function variant in METTL5 is associated with intellectual disability.

Intellectual disability-causing mutations in KIF11 impair microtubule dynamics and dendritic arborization.

Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly.

Use of paracetamol during pregnancy unchanged in the EU