Carpenter-Waziri syndrome (Q108502): 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 | ||
Síndrome de Carpenter-Waziri é uma síndrome de déficit intelectual ligada ao X (XLMR) pertencente ao grupo de condições caracterizadas pela associação de déficit intelectual com fácies hipotônica. Nos homens afetados, a síndrome foi caracterizada por uma aparência facial grosseira, braquidactilia com alargamento das falanges distais, baixa estatura e déficit intelectual moderado. | |||
| description / en | description / en | ||
Carpenter-Waziri syndrome is an X-linked intellectual deficit (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies. In the affected males the syndrome was characterised by a coarse facial appearance, brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit. | |||
Revision as of 15:34, 17 August 2026
Carpenter-Waziri syndrome is an X-linked intellectual deficit (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies. In the affected males the syndrome was characterised by a coarse facial appearance, brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2059967399 |
||
| English | Carpenter-Waziri syndrome |
Carpenter-Waziri syndrome is an X-linked intellectual deficit (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies. In the affected males the syndrome was characterised by a coarse facial appearance, brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit. |
