severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Findings
No curated finding names severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14.
Definition from the Mondo Disease Ontology (MONDO:0019786), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Downturned corners of mouthHPOHP:0002714
- Very frequent (80% to 99% of cases)
- Ectopic anusHPOHP:0004397
- Very frequent (80% to 99% of cases)
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Hypoplastic toenailsHPOHP:0001800
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Seizure
Show the remaining 4
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- PlagiocephalyHPOHP:0001357
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Ventricular septal defectHPOHP:0001629
- Frequent (30% to 79% of cases)