immunoskeletal dysplasia with neurodevelopmental abnormalities
MONDO:0044312Mondo
Findings
No curated finding names immunoskeletal dysplasia with neurodevelopmental abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Infantile onset · Juvenile onset · Neonatal onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
80 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.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 3 of 3 reported patients
- Broad ischiaHPOHP:0100865
- 1 of 1 reported patient
- Cervical spinal canal stenosisHPOHP:0008445
- 5 of 5 reported patients
- Coxa valgaHPOHP:0002673
- 3 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Hypoplasia of the capital femoral epiphysisHPOHP:0003090
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Increased intervertebral spaceHPOHP:0030320
- 3 of 3 reported patients
Show the remaining 68
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 1 reported patient
- Metaphyseal wideningHPOHP:0003016
- 1 of 1 reported patient
- PlatyspondylyHPOHP:0000926
- 11 of 11 reported patients
- PolyhydramniosHPOHP:0001561
- 1 of 1 reported patient
- RigidityHPOHP:0002063
- 1 of 1 reported patient
- Sacral dimpleHPOHP:0000960
- 1 of 1 reported patient
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.
- EXTL3HGNC:3518
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2026
Where it sits
- A kind of