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X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
Features include always present findings: Strabismus, Low muscle tone (hypotonia), Single transverse palmar crease, and Increased fetal movement and others; and very common findings: Tented upper lip vermilion, Short nose, Intellectual disability, and Absent speech and others. 74 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 22 | Bilateral tonic-clonic seizure, Stuttering, Ataxia |
NEXMIF encodes neurite extension and migration factor (1,516 aa). Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. Highest expression in Brain Cerebellar Hemisphere (4.2 TPM) and Pituitary (3.7 TPM).
X-linked intellectual disability, Cantagrel type is associated with mutations in the NEXMIF gene on chromosome X.
NEXMIF is classified as a druggable target with score 0.0.
Genetic testing for NEXMIF is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for X-linked intellectual disability, Cantagrel type has been reported in the published literature.
Phenotype severity distribution: 17 always present features, 11 very common features, 23 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for X-linked intellectual disability, Cantagrel type.
7 publications have been identified in PubMed for X-linked intellectual disability, Cantagrel type. Research spans Case Report / Case Series (57%), Diagnostic / Biomarker (14%), and Basic Science / Preclinical (14%).
Kessler C (2026). [PMID: 40961460](https://pubmed.ncbi.nlm.nih.gov/40961460/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Diagnostic / Biomarker]
Zhu Y (2026). [PMID: 41728594](https://pubmed.ncbi.nlm.nih.gov/41728594/). *Front Med (Lausanne)*. [Case Report / Case Series]
Khan A (2025). [PMID: 39400946](https://pubmed.ncbi.nlm.nih.gov/39400946/). *Clin Genet*. [Basic Science / Preclinical]
Wang Y (2025). [PMID: 40704646](https://pubmed.ncbi.nlm.nih.gov/40704646/). *J Pediatr Hematol Oncol*. [Case Report / Case Series]
Yuan N (2024). [PMID: 39501359](https://pubmed.ncbi.nlm.nih.gov/39501359/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked intellectual disability, Cantagrel type
Arms and legs | 6 | Lower limb spasticity, Short digit, Recurrent hand flapping |
Muscles | 5 | Low muscle tone (hypotonia), Axial hypotonia, Neonatal hypotonia |
Head and neck | 4 | Tented upper lip vermilion, Round face, Secondary microcephaly |
Digestive system | 3 | Gastroesophageal reflux, Feeding difficulties, Episodic vomiting |
Growth and development | 2 | Postnatal growth retardation, Failure to thrive |
Pregnancy and birth | 2 | Increased fetal movement, Neonatal hypotonia |
Kidneys and urinary system | 2 | Steroid-dependent nephrotic syndrome, Urinary incontinence |
Eyes | 1 | Strabismus |
Hormones | 1 | Central hypothyroidism |
Age of onset: before birth.
Qi H (2024). [PMID: 39129698](https://pubmed.ncbi.nlm.nih.gov/39129698/). *Actas Esp Psiquiatr*. [Case Report / Case Series]
Li Z (2024). [PMID: 38946365](https://pubmed.ncbi.nlm.nih.gov/38946365/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]