Menke-Hennekam syndrome 1
MONDO:0020763Mondo
Findings
No curated finding names Menke-Hennekam syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
63 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.
- Intellectual disabilityHPOHP:0001249
- 19 of 24 reported patients
- Feeding difficultiesHPOHP:0011968
- 18 of 24 reported patients
- Short palpebral fissureHPOHP:0012745
- 15 of 24 reported patients
- MicrognathiaHPOHP:0000347
- 14 of 24 reported patients
- Short columellaHPOHP:0002000
- 14 of 24 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 14 of 24 reported patients
- Autistic behaviorHPOHP:0000729
- 13 of 24 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 13 of 24 reported patients
- Hearing impairmentHPOHP:0000365
- 13 of 24 reported patients
- Prominent foreheadHPOHP:0011220
- 13 of 24 reported patients
- Protruding earHPOHP:0000411
- 13 of 24 reported patients
- StrabismusHPOHP:0000486
- 26 of 48 reported patients
Show the remaining 51
- TelecanthusHPOHP:0000506
- 13 of 24 reported patients
- Long philtrumHPOHP:0000343
- 12 of 24 reported patients
- Low-set earsHPOHP:0000369
- 12 of 24 reported patients
- Short noseHPOHP:0003196
- 12 of 24 reported patients
- CryptorchidismHPOHP:0000028
- 6 of 13 reported patients · Male
- Anteverted naresHPOHP:0000463
- 11 of 24 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.
- CREBBPHGNC:2348
- Definitive · G2P · Autosomal dominant · 2026
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of