spastic paraplegia-severe developmental delay-epilepsy syndrome
human disease
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spastic paraplegia-severe developmental delay-epilepsy syndrome
Summary
spastic paraplegia-severe developmental delay-epilepsy syndrome is a developmental defect during embryogenesis[1].
Key Facts
- spastic paraplegia-severe developmental delay-epilepsy syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- spastic paraplegia-severe developmental delay-epilepsy syndrome's instance of is recorded as rare disease[3].
- spastic paraplegia-severe developmental delay-epilepsy syndrome's instance of is recorded as class of disease[4].
- spastic paraplegia-severe developmental delay-epilepsy syndrome is a type of autosomal recessive complex spastic paraplegia[5].
- spastic paraplegia-severe developmental delay-epilepsy syndrome is a type of monogenic disease with epilepsy[6].
- spastic paraplegia-severe developmental delay-epilepsy syndrome is a type of genetic syndromic intellectual disability[7].
- spastic paraplegia-severe developmental delay-epilepsy syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[8].
- spastic paraplegia-severe developmental delay-epilepsy syndrome's genetic association is recorded as HACE1[9].
- spastic paraplegia-severe developmental delay-epilepsy syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_464282[10].