craniotubular dysplasia, Ikegawa type
MONDO:0859226Mondo
Findings
No curated finding names craniotubular dysplasia, Ikegawa type 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
- Juvenile onset · Pediatric onset
HPO, annotations 2026-09-02
Features
38 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.
- Broad femoral neckHPOHP:0006429
- 5 of 5 reported patients
- Broad ischiaHPOHP:0100865
- 5 of 5 reported patients
- Broad ribsHPOHP:0000885
- 5 of 5 reported patients
- PlatyspondylyHPOHP:0000926
- 5 of 5 reported patients
- Prominent foreheadHPOHP:0011220
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 5 of 5 reported patients
- Thickened calvariaHPOHP:0002684
- 5 of 5 reported patients
- Visual impairmentHPOHP:0000505
- 5 of 5 reported patients · Juvenile onset
- DolichocephalyHPOHP:0000268
- 4 of 5 reported patients
- HypertelorismHPOHP:0000316
- 4 of 5 reported patients
- Metaphyseal dysplasiaHPOHP:0100255
- 4 of 5 reported patients
- Sclerosis of skull baseHPOHP:0002694
- 4 of 5 reported patients
Show the remaining 26
- Thin bony cortexHPOHP:0002753
- 4 of 5 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 5 reported patients
- EpicanthusHPOHP:0000286
- 2 of 5 reported patients
- MacrocephalyHPOHP:0000256
- 4 of 10 reported patients
- 3-4 finger cutaneous syndactylyHPOHP:0011939
- 1 of 5 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 5 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.
- TMEM53HGNC:26186
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of