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PHS patients without mutations
| Individual | Deletion Analysis |
Findings or Symptoms | Additional Findings | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Mesoaxial Polydactyly |
Postaxial Polydactyly |
Preaxial Polydactyly |
Cutaneous Syndactyly |
Craniofacial Features |
Bifid Epiglottis | MRI Findings | |||
| PH22 | Array | HB | + | HH | Small nails, pointed teeth, genital hypoplasia, microglossia, MR | ||||
HB, hands bilateral; HH, hypothalamic hamartoma; MR, mental retardation; +, presence of finding.
