has material basis in germline mutation in HACE1 syndromic intellectual disability congenital nervous system disorder spastic paraplegia-severe developmental delay-epilepsy syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_and_psychomotor_retardation_with_or_without_seizures https://www.malacards.org/card/spastic_paraplegia_severe_developmental_delay_epilepsy_syndrome Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. GARD:0017816 SPPRS MEDGEN:897828 spastic paraplegia-psychomotor retardation-seizures syndrome OMIM:616756 MONDO:0014764 UMLS:C4225215 SPPRS syndrome complex hereditary spastic paraplegia multiple congenital anomalies/dysmorphic syndrome-intellectual disability monogenic epilepsy