Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Pili torti - developmental delay - neurological abnormalities

Orpha number ORPHA2891
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
ICD-O -
OMIM
UMLS
  • C1849811
MeSH
  • C537398
MedDRA -
SNOMED CT -

Summary

This syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
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.