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1.

Periventricular nodular heterotopia 7

Periventricular nodular heterotopia-7 (PVNH7) is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see 300049. [from OMIM]

MedGen UID:
934636
Concept ID:
C4310669
Disease or Syndrome
2.

1-4 toe syndactyly

Syndactyly with fusion of toes one to four. [from HPO]

MedGen UID:
869299
Concept ID:
C4023725
Congenital Abnormality

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