Search for a rare disease
Other search option(s)
X-linked intellectual disability, Nascimento type
Disease 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.
ORPHA:163956
Classification level: Disorder- Synonym(s):
- X-linked intellectual disability-nail dystrophy-seizures syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy
- ICD-10: Q87.8
- OMIM: 300860
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.