onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
MONDO:0859161Mondo
Findings
No curated finding names onychodystrophy, osteodystrophy, impaired intellectual development, and seizures 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
HPO, annotations 2026-09-02
Features
27 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hypoplastic fifth fingernailHPOHP:0008398
- 2 of 2 reported patients
- Hypoplastic thumbnailHPOHP:0012553
- 2 of 2 reported patients
- Hypoplastic toenailsHPOHP:0001800
- 2 of 2 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
- Absent fifth toenailHPOHP:0200105
- 1 of 2 reported patients
- Absent speechHPOHP:0001344
- 1 of 2 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 2 reported patients
- Bilateral triphalangeal thumbsHPOHP:0005707
- 1 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
- 1 of 2 reported patients
Show the remaining 15
- Delayed eruption of permanent teethHPOHP:0000696
- 1 of 2 reported patients
- Head-bangingHPOHP:0012168
- 1 of 2 reported patients
- Hypoplastic fingernailHPOHP:0001804
- 1 of 2 reported patients
- Impaired toileting abilityHPOHP:0031061
- 1 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 2 reported patients
- MicrodontiaHPOHP:0000691
- 1 of 2 reported patients
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.
- PIGFHGNC:8962
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of