X-linked intellectual disability, Nascimento type

Orpha code: 163956OMIM code: 300860

Definition

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

Disease data
Classification

Disease

Synonyms
X-linked intellectual disability-nail dystrophy-seizures syndrome
Niepełnosprawność intelektualna sprzężona z chromosomem X - dystrofia paznokci - napady padaczkowe
ORPHA code
163956
OMIM code
300860
ICD10 code
Q87.8
ICD11 code
LD90

No additional description.

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