PedAM
Pediatric Disease Annotations & Medicines
| Disease | ectodermal dysplasia |
| Phenotype | C0025958|microcephaly |
| Sentences | 2 |
| PubMedID- 22378287 | Patients share some common and indeed distinctive findings, and this deletion could potentially represent a clinically identifiable syndrome mainly characterized by developmental delay/intellectual disabilities (dd/id), speech disturbance, pre- and postnatal growth retardation, microcephaly, signs of ectodermal dysplasia, and genital malformations in males (hypospadias). |
| PubMedID- 24764755 | Patients present a diamond-blackfan syndrome, pre and postnatal growth deficiency, tall stature, microcephaly, hypospadias, signs of ectodermal dysplasia and aplasia cutis vertex. |
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