Delayed speech and language development, and Arrhythmia

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

• Motor delay
• Skeletal muscle atrophy
• Gait disturbance
• Arrhythmia
• Proximal muscle weakness

SOURCES: ORPHANET SCTID

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6

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

SOURCES: MONDO UMLS OMIM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Motor delay

SOURCES: OMIM MONDO GARD UMLS

Low match LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016).

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

SOURCES: UMLS MONDO OMIM

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ventriculomegaly

SOURCES: UMLS OMIM MONDO DOID

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Cognitive impairment
• Feeding difficulties

SOURCES: OMIM UMLS MONDO

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

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

SOURCES: UMLS MONDO DOID OMIM

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA

Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by Lodder et al., 2016).

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

SOURCES: MONDO OMIM UMLS

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: MONDO UMLS OMIM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

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

SOURCES: GARD UMLS MONDO OMIM