Delayed speech and language development, and Focal seizures

Low match SECKEL SYNDROME 6; SCKL6

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

SOURCES: UMLS DOID OMIM MONDO

Low match EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1

Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life ({9,8:Scheffer et al., 1994, 1995}). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997). Genetic Heterogeneity of Nocturnal Frontal Lobe EpilepsyNocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (OMIM ), which maps to chromosome 15q24; ENFL3 (OMIM ), caused by mutation in the CHRNB2 gene (OMIM ) on chromosome 1q21; ENFL4 (OMIM ), caused by mutation in the CHRNA2 gene (OMIM ) on chromosome 8p21; and ENFL5 (OMIM ), caused by mutation in the KCNT1 gene (OMIM ) on chromosome 9q34.Nocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF ), caused by mutation in the DEPDC5 gene (OMIM ) on chromosome 22q12.

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Focal seizures
• Childhood onset

SOURCES: MONDO MESH UMLS DOID OMIM

Low match MENTAL RETARDATION, X-LINKED 96; MRX96

• Intellectual disability
• Seizures
• X-linked dominant inheritance

SOURCES: MONDO UMLS OMIM

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Abnormal facial shape

SOURCES: UMLS OMIM MONDO MESH

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Delayed speech and language development

SOURCES: DOID OMIM MONDO UMLS

Low match EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Delayed speech and language development

SOURCES: UMLS MONDO OMIM

Low match GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9

Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by Schubert et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9 Is also known as gefs+, type 9;gefs+9

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

SOURCES: MONDO UMLS OMIM

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 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Delayed speech and language development
• Hyperreflexia

SOURCES: MESH MONDO OMIM UMLS

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

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

SOURCES: MONDO UMLS OMIM