-
| 1443 | Ring chromosome 19 syndrome
-
| 141229 | Facial cleft
-
| 141261 | Tessier number 5 facial cleft
-
| 141258 | Tessier number 4 facial cleft
-
| 1458 | CODAS syndrome
-
| 141253 | Oblique facial cleft
-
| 1454 | Joubert syndrome with hepatic defect
-
| 190 | Coats disease
-
| 1429 | Benign hereditary chorea
-
| 141199 | Cerebrofacial arteriovenous metameric syndrome type 3
-
| 141194 | Cerebrofacial arteriovenous metameric syndrome type 1
-
| 141189 | Cerebrofacial arteriovenous metameric syndrome
-
| 1426 | Greenberg dysplasia
-
| 141184 | Rapidly involuting congenital hemangioma
-
| 1427 | Otospondylomegaepiphyseal dysplasia
-
| 141219 | Nasal dorsum fistula
-
| 1435 | Xq21 microdeletion syndrome
-
| 1436 | X-linked skeletal dysplasia-intellectual disability syndrome
-
| 141214 | Isolated congenital syngnathia
-
| 141209 | Diffuse lymphatic malformation
-
| 1432 | Autosomal dominant chorioretinopathy-microcephaly syndrome
-
| 1433 | Choroidal atrophy-alopecia syndrome
-
| 155832 | Rare head and neck malformation
-
| 1484 | Contractures-ectodermal dysplasia-cleft lip/palate syndrome
-
| 155835 | Cysts and fistulae of the face and oral cavity
-
| 141333 | Biemond syndrome type 2
-
| 155878 | Submucosal cleft palate
-
| 1490 | Corneal dystrophy-perceptive deafness syndrome
-
| 1487 | Cooks syndrome
-
| 155838 | Pinnae fistula or cyst
-
| 155867 | Paramedian facial cleft
-
| 1486 | Lethal congenital contracture syndrome type 1
-
| 141276 | Tessier number 7 facial cleft
-
| 141265 | Tessier number 6 facial cleft
-
| 1466 | COFS syndrome
-
| 141269 | Lateral facial cleft
-
| 141327 | Orofaciodigital syndrome type 12
-
| 141330 | Orofaciodigital syndrome type 13
-
| 1471 | Coloboma of macula-brachydactyly type B syndrome
-
| 141288 | Midline cervical cleft
-
| 141091 | Polyrrhinia
-
| 1408 | Hair defect-photosensitivity-intellectual disability syndrome
-
| 1409 | Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
-
| 141083 | Nasolacrimal duct cyst
-
| 1410 | Uncombable hair syndrome
-
| 141099 | Proboscis lateralis
-
| 141096 | Supernumerary nostril
-
| 1412 | Tarsal-carpal coalition syndrome
-
| 141107 | Nasopharyngeal teratoma
-
| 141103 | Nasal dermoid cyst
-
| 141115 | Nasal ganglioglioma
-
| 1416 | Familial calcium pyrophosphate deposition
-
| 141112 | Nasal glial heterotopia
-
| 1394 | Cerebrofaciothoracic dysplasia
-
| 141051 | Facial dermoid cyst
-
| 141064 | Lower lip fistula
-
| 141061 | Commissural lip fistula
-
| 141071 | Digestive duplication cyst of the tongue
-
| 1397 | Hydrocephaly-cerebellar agenesis syndrome
-
| 141067 | Cervicofacial fibrochondroma
-
| 1398 | Isolated cerebellar agenesis
-
| 1399 | Richards-Rundle syndrome
-
| 141077 | Epignathus
-
| 1401 | CHAND syndrome
-
| 141074 | External auditory canal aplasia/hypoplasia
-
| 141152 | Isolated congenital hypoglossia/aglossia
-
| 174 | Metaphyseal chondrodysplasia, Schmid type
-
| 141163 | Glossopalatine ankylosis
-
| 141168 | Frontonasal arteriovenous malformation
-
| 141171 | Maxillary arteriovenous malformation
-
| 1425 | Desbuquois syndrome
-
| 141174 | Mandibular arteriovenous malformation
-
| 141179 | Non-involuting congenital hemangioma
-
| 141118 | Nasal encephalocele
-
| 141121 | Congenital subglottic stenosis
-
| 141124 | Congenital laryngeal cyst
-
| 141127 | Congenital tracheal stenosis
-
| 141132 | Oculo-auriculo-vertebral spectrum
-
| 141136 | Otomandibular syndrome
-
| 141145 | Hemifacial hyperplasia
-
| 141148 | Hemifacial myohyperplasia
-
| 156728 | Spondyloepimetaphyseal dysplasia, matrilin-3 type
-
| 1375 | Cataract-hypertrichosis-intellectual disability syndrome
-
| 156723 | Piepkorn dysplasia
-
| 156643 | Genetic endocrine growth disease
-
| 163 | Hereditary hyperferritinemia-cataract syndrome
-
| 156638 | Rare genetic endocrine disease
-
| 156629 | Genetic hypertension
-
| 1373 | Cataract-aberrant oral frenula-growth delay syndrome
-
| 156622 | Genetic urogenital tract malformation
-
| 156619 | Rare genetic urogenital disease
-
| 1368 | Cataract-ataxia-deafness syndrome
-
| 156610 | Rare genetic respiratory disease
-
| 1366 | Autosomal recessive palmoplantar keratoderma and congenital alopecia
-
| 156607 | Genetic biliary tract disease
-
| 156604 | Genetic parenchymatous liver disease
-
| 156601 | Rare genetic hepatic disease
-
| 156532 | Rare syndrome with cardiac malformations
-
| 156252 | Tracheal anomaly
-
| 1361 | Carnosinase deficiency
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