Scoliosis, and Generalized seizures

Low match MYOCLONIC-ATONIC EPILEPSY; MAE

Myoclonic-atonic epilepsy is an autosomal dominant disorder characterized by onset of absence and myoclonic seizures in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset (summary by Carvill et al., 2015).

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Scoliosis

SOURCES: UMLS MONDO OMIM

Low match EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6

Progressive myoclonic epilepsy-6 is an autosomal recessive neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade (summary by Corbett et al., 2011).For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (OMIM ).

EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6 Is also known as ;epm6; gosr2-related progressive myoclonus ataxia; north sea progressive myoclonus epilepsy; pme type 6; progressive myoclonus epilepsy type 6

• Autosomal recessive inheritance
• Seizures
• Scoliosis
• Ataxia
• Peripheral neuropathy

SOURCES: OMIM ORPHANET GARD UMLS MONDO

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH Is also known as mental retardation, x-linked, with epilepsy;mrxe;mrxsh

• Intellectual disability
• Seizures
• Global developmental delay
• Scoliosis
• Motor delay

SOURCES: ORPHANET MESH DOID MONDO OMIM UMLS

Low match MENTAL RETARDATION, X-LINKED 49; MRX49

Nonsyndromic mental retardation. Hypotonia in infancy, poor or absent speech, and other disorders are occasionally associated.

MENTAL RETARDATION, X-LINKED 49; MRX49 Is also known as mental retardation, x-linked 15;mrx15

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

SOURCES: UMLS MONDO OMIM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 Is also known as epilepsy, female-restricted, with mental retardation;efmr, juberg-hellman syndrome;efmr; juberg-hellman syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Scoliosis
• Ataxia

SOURCES: GARD DOID MESH OMIM MONDO ORPHANET UMLS

Low match ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS

(1p21).

ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS Is also known as ;slc35a3-cdg

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

SOURCES: ORPHANET OMIM MONDO UMLS

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: OMIM DOID UMLS MONDO

Low match PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Generalized hypotonia
• Pica

SOURCES: MONDO UMLS OMIM

Low match EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3

Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by Staropoli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3 Is also known as ceroid lipofuscinosis, neuronal, 14;cln14;epm3; pme type 3; progressive myoclonic epilepsy due to kctd7 deficiency; progressive myoclonus epilepsy type 3

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Microcephaly
• Scoliosis

SOURCES: MESH OMIM ORPHANET GARD MONDO UMLS

Low match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: UMLS OMIM