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MCID: LTH051
MIFTS: 7
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Lethal Brain and Heart Developmental Defects
Categories:
Cardiovascular diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lethal Brain and Heart Developmental Defects:
Name: Lethal Brain and Heart Developmental Defects
58
Characteristics:Inheritance:
Autosomal recessive 58
Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Anatomical: Neuronal diseases Cardiovascular diseases Mental diseases
Orphanet: 58
Rare neurological diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis External Ids:
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Orphanet: 58 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. MalaCards based summary: Lethal Brain and Heart Developmental Defects An important gene associated with Lethal Brain and Heart Developmental Defects is SIRT6 (Sirtuin 6). Affiliated tissues include heart, brain and bone. |
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Organs/tissues related to Lethal Brain and Heart Developmental Defects:
MalaCards :
Heart,
Brain,
Bone
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Search
GEO
for disease gene expression data for Lethal Brain and Heart Developmental Defects.
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