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rare genetic developmental defect during embryogenesis
Subclasses
LIG4 syndrome
? TBD
Medical condition
Rothmund–Thomson syndrome
? TBD
Rare autosomal recessive skin condition
Tetralogy of Fallot
? TBD
Type of congenital heart defect
Lissencephaly
? TBD
Birth defect in which the brain lacks surface folds
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
? TBD
human disease
genetic vascular anomaly
? TBD
instance of vascular anomaly that is caused by a modification of the individual's genome
Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
? TBD
Rare X-linked dominant genetic disorder
Mitochondrial DNA depletion syndrome
? TBD
Medical condition
syndromic genetic deafness
? TBD
human disease
Congenital heart defect
? TBD
Defect in the structure of the heart that is present at birth
Merkel-cell carcinoma
? TBD
Rare and highly aggressive skin cancer
syndromic renal or urinary tract malformation
? TBD
renal or urinary tract malformation that is part of a larger syndrome
Autosomal recessive cerebellar ataxia
? TBD
Index of articles associated with the same name
Overgrowth syndrome
? TBD
Group of rare genetic disorders involving tissue hypertrophy
X-linked cerebellar ataxia
? TBD
X-linked form of cerebellar ataxia
combined oxidative phosphorylation defect type 30
? TBD
human disease
Gastroschisis
? TBD
Defect resulting in visible intestines
combined oxidative phosphorylation defect type 27
? TBD
human disease