A multiple developmental anomalies syndrome with characteristics of neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosi

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

syndroom van Freire-Maia-Pinheiro-Opitz

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]

An extremely rare syndrome described in three members of a family (a mother and her two children) with the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary mem

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

aniridie, ptose, intellectuele achterstand, familiale obesitas-syndroom

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]

This syndrome has characteristics of severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and tw

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

kleine gestalte, valvulaire hartziekte, karakteristiek gelaat-syndroom

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]

blepharochalasis | ptosis atrophica

http://iate.europa.eu/FindTerm (...) (...) [HTML] [2017-12-31]

blepharochalasis | dermatolysis palpebrarum | ptosis atrophica

http://iate.europa.eu/FindTerm (...) (...) [HTML] [2017-12-31]

http://iate.europa.eu/FindTerm (...) [HTML] [2017-12-31]

Congenital ptosis

https://icd.who.int/browse10/2 (...) (...) [HTML] [2018-01-01]

congenitale ptosis

https://icd.who.int/browse10/2 (...) (...) [HTML] [2018-01-01]

https://terminologie.nictiz.nl (...) [HTML] [2018-01-01]

D'autres ont cherché : congenital ptosis ptosis of eyelid airman's ptosis blepharochalasis blepharoptosis droopy upper eyelid ptosis ptosis atrophica Ptosis

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'Ptosis' ->

Date index: 2023-05-18