Table 2.
Overview of Frequent Clinical Symptoms Present in Heterozygous Females
| Characteristics and Symptoms | HPO ID | Family 2 | Family 3 | Family 4 | Family 5 | Simplex Case 2 | Simplex Case 3 | Total (per Genotype) |
|---|---|---|---|---|---|---|---|---|
| Mutation | NA | c.593G>A (p.Arg198Gln) | c.601C>T (p.Pro201Ser) | c.637C>T (p.Arg213Trp) | c.637C>T (p.Arg213Trp) | deletion of chrX: 63,666,909–64,493,512 | deletion of chrX: 64,049,596–64,370,757 | NA |
| Origin | NA | Germany | Netherlands | Australia | France | United States | Spain | NA |
| Age at last assessment | NA | – | – | – | – | 9 years | 13 years | NA |
| Number of affected individuals | NA | 1 | 7 | 1 | 2 | 1 | 1 | 5 genotypes |
| Genitourinary | ||||||||
| Urine incontinence | HPO:20 | – | 1 | – | – | 1 | 1 | 3/5 |
| Skeletal | ||||||||
| Camptodactyly | HPO:1215 | – | 5 | – | – | 1 | 1 | 3/5 |
| Equinovarus foot deformity or contracture of Achilles tendon | HPO:8110, 1771 | 1 | 3 | – | – | 1 | 1 | 4/5 |
| Muscle and Soft Tissue | ||||||||
| Distal muscle weakness | HPO:2460 | – | 3 | – | – | 1 | 1 | 3/5 |
| Neurologic | ||||||||
| Intellectual disability | HPO:1249 | – | 3 | 1 | 2 | 1 | 1 | 4/5 |
| Dysarthria and/or deficit in expressive language | HPO:1260 | – | 1 | – | – | 1 | 1 | 3/5 |
This table shows the clinical symptoms seen in >50% of the five different genotypes of all affected females from families 2–5 and simplex cases 2 and 3. The entire set of symptoms is listed in Table S1B. All symptoms are listed according to the nomenclature and the systematics of the OMIM “Clinical Synopsis” and are mapped to the Human Phenotype Ontology.17 The phenotype of family 3 has been published.10 Abbreviations are as follows: HPO, Human Phenotype Ontology; NA, not applicable; and –, symptom absent or unknown.