X-linked lissencephaly - agenesis of corpus callosum - genital anomalies (Q57547): Difference between revisions
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| description / pt-br | description / pt-br | ||
Lissencefalia ligada ao X com genitália anormal (XLAG) é um transtorno neurológico grave que se manifesta apenas em homens e inclui lissencefalia com gradiente posterior-anterior e apenas aumento moderado na espessura do córtex, corpo caloso ausente, epilepsia grave de início neonatal, disfunção hipotalâmica incluindo regulação de temperatura defeituosa e genitália ambígua com micropênis e criptorquidia. | |||
| description / en | description / en | ||
X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. | |||
Revision as of 05:11, 14 August 2026
X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_714984818 |
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| English | X-linked lissencephaly - agenesis of corpus callosum - genital anomalies |
X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. |
