19q13.11 deletion (Q54983): Difference between revisions
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A microdeleção 19q13.11 é caracterizada por várias particularidades significativas, incluindo retardo de crescimento pré e pós-natal, hábito esbelto, graves dificuldades de alimentação pós-natal, microcefalia, déficit intelectual com transtorno da fala, hipospádia e displasia ectodérmica apresentada por aplasia do couro cabeludo, cabelo, sobrancelhas e cílios finos e ralos , pele fina e seca e unhas displásicas. | |||
| description / en | description / en | ||
19q13.11 microdeletion is characterised by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplastic nails. | |||
Revision as of 02:36, 14 August 2026
19q13.11 microdeletion is characterised by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplastic nails.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1795118895 |
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| English | 19q13.11 deletion |
19q13.11 microdeletion is characterised by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplastic nails. |
