developmental and epileptic encephalopathy, 77
MONDO:0032808Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 77 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
36 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.
- Abdominal wall muscle weaknessHPOHP:0009023
- 1 of 1 reported patient
- AlacrimaHPOHP:0000522
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- AstigmatismHPOHP:0000483
- 1 of 1 reported patient
- Broad nasal tipHPOHP:0000455
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Deep plantar creasesHPOHP:0001869
- 1 of 1 reported patient
- Diastasis rectiHPOHP:0001540
- 1 of 1 reported patient
- Downturned corners of mouthHPOHP:0002714
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient
Show the remaining 24
- Floppy infantHPOHP:0008947
- 1 of 1 reported patient
- Full cheeksHPOHP:0000293
- 1 of 1 reported patient
- Hooded upper eyelidHPOHP:0030822
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
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.
- PIGQHGNC:14135
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 77
- Also called
- DEE77EIEE77epileptic encephalopathy, early infantile, 77multiple congenital anomalies-hypotonia-seizures syndrome 4