Spasticity, and Generalized seizures

Medium match BENIGN FAMILIAL NEONATAL EPILEPSY

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns; benign familial neonatal convulsions; benign familial neonatal seizures

• Seizures
• Cognitive impairment
• Hypertonia

SOURCES: ORPHANET

Low match PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD Is also known as ;

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly

SOURCES: UMLS MONDO ORPHANET OMIM SCTID DOID

Low match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

, Xp22.13).

• Intellectual disability
• Spasticity
• Hypertonia
• Rigidity
• Status epilepticus

SOURCES: ORPHANET

Low match DYSTONIA 9; DYT9

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

DYSTONIA 9; DYT9 Is also known as choreoathetosis/spasticity, episodic, cse choreoathetosis, paroxysmal, with episodic ataxia, choreoathetosis, kinesigenic, with episodic ataxia and spasticity;dyt9; episodic choreoathetosis/spasticity

• Autosomal dominant inheritance
• Intellectual disability
• Ataxia
• Cognitive impairment
• Spasticity

SOURCES: OMIM SCTID MONDO ORPHANET UMLS MESH DOID

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Spasticity

SOURCES: UMLS MONDO DOID OMIM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39 Is also known as hypomyelination, global cerebral, aspartate-glutamate carrier 1 deficiency, agc1 deficiency;agc1 deficiency; mitochondrial aspartate-glutamate carrier 1 deficiency

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: UMLS ORPHANET MONDO MESH OMIM

Low match EPILEPSY, PROGRESSIVE MYOCLONIC, 10; EPM10

Progressive myoclonic epilepsy-10 is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by Turnbull et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (OMIM ).

EPILEPSY, PROGRESSIVE MYOCLONIC, 10; EPM10 Is also known as ;

• Autosomal recessive inheritance
• Seizures
• Ataxia
• Spasticity
• Dysarthria

SOURCES: UMLS OMIM ORPHANET MONDO

Low match PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013).Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A Is also known as park19, formerly

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Pica
• Cognitive impairment

SOURCES: MONDO DOID UMLS OMIM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Pica

SOURCES: UMLS MONDO OMIM

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 Is also known as ;

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: UMLS MONDO OMIM ORPHANET