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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.
Features include common findings: Cryptorchidism, Hypogonadism, Microcephaly, and Retrognathia and others; and sometimes findings: High palate and Abnormal heart morphology.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Intellectual disability, Seizure, Progressive spasticity |
Phenotype severity distribution: 14 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:08 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked intellectual disability, Seemanova type
2 |
Microcephaly, High palate |
Hormones | 1 | Hypogonadism |
Eyes | 1 | Developmental cataract |
Bones and joints | 1 | Skeletal muscle atrophy |
Muscles | 1 | Skeletal muscle atrophy |
Heart and blood vessels | 1 | Abnormal heart morphology |