| Individual ID |
00107880 |
| Associated disease |
HMMS |
| Phenotype details |
craniosynostosis; brachycephaly; bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; severe progressive myopia; absence/dysfunction of nasolacrimal structures; no dysfunction of parotid glands; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; loss of lamina dura; thin enamel/enamel hypoplasia; low-set/ear abnormalities; no bilateral preauricular tags; sensori neural hearing impairment; mild micrognathia; low posterior hair line/extra frontal hair whorl; generalized osteopenia; long bone fractures; hip dysplasia; no pectus excavatum; pterygium colli/slopping shoulder; no syndactyly/tapering fingers/long toes/5th finger clinodactyly; thumb deviation/ectopic finger creases/long fingers/short index; tiny patent ductus arteriosus; no mild mitral regurgitation; no atrial septal defect; intraventricular conduction delay; no total A-V canal; inguinal hernia; no hypoparathyroidism; cryptorchidism and absence of gonad activity; microcytic hypochromic anemia; moderate psychomotor retardation; unclear speech |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
HMMS |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Gerard C.P. Schaafsma |
| Date created |
2012-06-01 14:01:15 +02:00 (CEST) |
| Date last edited |
2021-02-08 10:05:26 +01:00 (CET) |
