intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
MONDO:0026733Mondo
Findings
No curated finding names intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Disproportionate tall statureHPOHP:0001519
- 10 of 10 reported patients · Childhood onset · Male
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients · Male
- HypotoniaHPOHP:0001252
- 10 of 10 reported patients
- Joint hypermobilityHPOHP:0001382
- 9 of 10 reported patients
- ArachnodactylyHPOHP:0001166
- 8 of 10 reported patients · Male
- Long faceHPOHP:0000276
- 8 of 10 reported patients · Male
- Protruding earHPOHP:0000411
- 8 of 10 reported patients · Male
- Midface retrusionHPOHP:0011800
- 7 of 10 reported patients · Male
- Open mouthHPOHP:0000194
- 7 of 10 reported patients · Male
- Short philtrumHPOHP:0000322
- 7 of 10 reported patients · Male
- ScoliosisHPOHP:0002650
- 6 of 10 reported patients · Male
- Abdominal obesityHPOHP:0012743
- 5 of 10 reported patients · Male
Show the remaining 11
- CamptodactylyHPOHP:0012385
- 4 of 10 reported patients
- CryptorchidismHPOHP:0000028
- 4 of 10 reported patients · Male
- Mitral regurgitationHPOHP:0001653
- 3 of 10 reported patients · Childhood onset · Male
- Pectus carinatumHPOHP:0000768
- 3 of 10 reported patients
- Aortic root aneurysmHPOHP:0002616
- 1 of 10 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 10 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.
- NKAPHGNC:29873
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Strong · G2P · X-linked · 2019
- Moderate · Ambry Genetics · X-linked · 2019
Where it sits
Other names
1 name
Resolves to: intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
- Also called
- intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive