2q31.1 deletion (Q95871): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A síndrome de microdeleção do 2q31.1 é uma síndrome bem definida e clinicamente reconhecível caracterizada por atraso de desenvolvimento moderado a grave, baixa estatura, dismorfismo facial e defeitos variáveis de membros que variam de ectrodactilia monodáctila, braquidactilia e sindactilia até camptodactilia. | |||
| description / en | description / en | ||
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. | |||
Revision as of 11:42, 16 August 2026
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_491362822 |
||
| English | 2q31.1 deletion |
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. |
