Search on: HOLOPROSENCEPHALY 
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Descriptor English:   Holoprosencephaly 
Descriptor Spanish:   Holoprosencefalia 
Descriptor Portuguese:   Holoprosencefalia 
Synonyms English:   Alobar Holoprosencephalies
Alobar Holoprosencephaly
Arhinencephalies
Arhinencephaly
Holoprosencephalies
Holoprosencephalies, Alobar
Holoprosencephalies, Lobar
Holoprosencephalies, Semilobar
Holoprosencephaly, Alobar
Holoprosencephaly, Familial Alobar
Holoprosencephaly, Lobar
Holoprosencephaly, Semilobar
Lobar Holoprosencephalies
Lobar Holoprosencephaly
Semilobar Holoprosencephalies
Semilobar Holoprosencephaly  
Tree Number:   C05.660.207.410
C10.500.034.875
C16.131.077.410
C16.131.260.380
C16.131.621.207.410
C16.131.666.034.875
C16.320.180.380
Definition English:   Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES. 
History Note English:   91 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   28982 
Unique Identifier:   D016142 

Occurrence in VHL: 		 

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