syndromic X-linked intellectual disability Najm type
Findings
No curated finding names syndromic X-linked intellectual disability Najm type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
Definition from the Mondo Disease Ontology (MONDO:0010417), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
59 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 5 of 5 reported patients
Show the remaining 47
- Delayed ability to sitHPOHP:0025336
- 3 of 4 reported patients
- Appendicular spasticityHPOHP:0034353
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- 2 of 5 reported patients
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CASKHGNC:1497
- Definitive · Ambry Genetics · X-linked · 2023
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: syndromic X-linked intellectual disability Najm type
- Also called
- intellectual disability and microcephaly with pontine and cerebellar hypoplasiamental retardation and microcephaly with PONTINE and cerebellar hypoplasiamental retardation, X-linked, syndromic, Najm typeMICPCHMICPCH syndromeX-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome