Orphanet: Alobar holoprosencephaly

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Alobar holoprosencephaly

Disease definition

A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.

ORPHA:93925

Classification level: Subtype of disorder

Synonym(s): -
Prevalence: 1-9 / 100 000
Inheritance: Multigenic/multifactorial or Not applicable
Age of onset: Infancy, Neonatal
ICD-10: Q04.2
ICD-11: LA05.2
OMIM: 157170 301043 609637 610829
UMLS: C0431363
MeSH: -
GARD: -
MedDRA: -

Detailed information

Disease review articles

Clinical genetics review
English (2020) - GeneReviews

Genetic Testing

Guidance for genetic testing
English (2010) - Eur J Hum Genet
Français (2015, pdf) - ANPGM

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Alobar holoprosencephaly

ORPHA:93925

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2011) Italiano (2011) Português (2011) Polski (2011, pdf)

Disease review articles

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services