developmental and epileptic encephalopathy, 75
MONDO:0032752Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 75 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
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.
- Absent speechHPOHP:0001344
- 3 of 3 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypsarrhythmiaHPOHP:0002521
- 3 of 3 reported patients · Infantile onset
- Secondary microcephalyHPOHP:0005484
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Prolonged neonatal jaundiceHPOHP:0006579
- 2 of 3 reported patients · Neonatal onset
- Anteverted naresHPOHP:0000463
- Babinski signHPOHP:0003487
- Cerebral cortical atrophyHPOHP:0002120
- CNS hypomyelinationHPOHP:0003429
- Frontal cortical atrophyHPOHP:0006913
Show the remaining 11
- HypertelorismHPOHP:0000316
- Hypoplasia of the corpus callosumHPOHP:0002079
- Open mouthHPOHP:0000194
- Optic disc pallorHPOHP:0000543
- ProptosisHPOHP:0000520
- Short chinHPOHP:0000331
- Short noseHPOHP:0003196
- Short philtrumHPOHP:0000322
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.
- PARS2HGNC:30563
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- 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, 75
- Also called
- DEE75developmental and epileptic encephalopathy 75EIEE75EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75