X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
Findings
No curated finding names X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.
Definition from the Mondo Disease Ontology (MONDO:0019416), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Very frequent (80% to 99% of cases)
- HypertrichosisHPOHP:0000998
- Very frequent (80% to 99% of cases)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- Progressive neurologic deteriorationHPOHP:0002344
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
- Prominent supraorbital ridgesHPOHP:0000336
- Frequent (30% to 79% of cases)