intellectual developmental disorder with dysmorphic facies and ptosis
MONDO:0015022Mondo
Findings
No curated finding names intellectual developmental disorder with dysmorphic facies and ptosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
29 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.
- Delayed speech and language developmentHPOHP:0000750
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 9 of 10 reported patients
- HypertelorismHPOHP:0000316
- 9 of 10 reported patients
- Wide nasal bridgeHPOHP:0000431
- 9 of 10 reported patients
- HypotoniaHPOHP:0001252
- 7 of 8 reported patients
- Flat faceHPOHP:0012368
- 7 of 9 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 6 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 8 reported patients
- Round faceHPOHP:0000311
- 7 of 10 reported patients
- Joint hypermobilityHPOHP:0001382
- 6 of 10 reported patients
- PtosisHPOHP:0000508
- 6 of 10 reported patients
Show the remaining 17
- Delayed ability to walkHPOHP:0031936
- 5 of 9 reported patients
- BlepharophimosisHPOHP:0000581
- 4 of 8 reported patients
- SeizureHPOHP:0001250
- 5 of 10 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 4 of 10 reported patients
- Feeding difficultiesHPOHP:0011968
- 4 of 10 reported patients
- Broad foreheadHPOHP:0000337
- 3 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.
- BRPF1HGNC:14255
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: intellectual developmental disorder with dysmorphic facies and ptosis
- Also called
- IDDDFPintellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP