X-linked intellectual disability, Pai type
Findings
No curated finding names X-linked intellectual disability, Pai type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome.
Definition from the Mondo Disease Ontology (MONDO:0019420), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
Show the remaining 6
- Inguinal herniaHPOHP:0000023
- Occasional (5% to 29% of cases)
- Narrow mouthHPOHP:0000160
- Occasional (5% to 29% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Occasional (5% to 29% of cases)
- Protruding earHPOHP:0000411
- Occasional (5% to 29% of cases)
- Spastic tetraplegiaHPOHP:0002510
- Occasional (5% to 29% of cases)
- Tapered fingerHPOHP:0001182
- Occasional (5% to 29% of cases)