cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
MONDO:0014455Mondo
Findings
No curated finding names cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 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
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
52 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.
- Breech presentationHPOHP:0001623
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Coronal cleft vertebraeHPOHP:0003417
- 1 of 1 reported patient
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Delayed epiphyseal ossificationHPOHP:0002663
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Distal sensory impairmentHPOHP:0002936
- 3 of 3 reported patients
- Flared metaphysisHPOHP:0003015
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 3 of 3 reported patients
- Hip dislocationHPOHP:0002827
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- 1 of 1 reported patient
- HypermetropiaHPOHP:0000540
- 1 of 1 reported patient
Show the remaining 40
- HypoglycemiaHPOHP:0001943
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Infra-orbital creaseHPOHP:0100876
- 1 of 1 reported patient
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- Metaphyseal irregularityHPOHP:0003025
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 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.
- IARS2HGNC:29685
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
- Limited · G2P · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Also called
- CAGSSS