X-linked intellectual disability, Seemanova type
Findings
No curated finding names X-linked intellectual disability, Seemanova type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.
Definition from the Mondo Disease Ontology (MONDO:0019421), 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.
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Developmental cataractHPOHP:0000519
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- HypogonadismHPOHP:0000135
- Frequent (30% to 79% of cases)
- Hypoplasia of the musculatureHPOHP:0009004
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPO
Show the remaining 4
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)