Global developmental delay, and Attention deficit hyperactivity disorder

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Is also known as mental retardation, autosomal recessive 2a|mrt2a

• Intellectual disability
• Seizures
• Global developmental delay
• Delayed speech and language development
• Intellectual disability, severe

SOURCES: OMIM MESH MENDELIAN

Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported (Ge et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 (OMIM ).

• Seizures
• Global developmental delay
• Spasticity
• Delayed speech and language development
• Hyperactivity

SOURCES: OMIM MENDELIAN

The Houge type of X-linked syndromic mental retardation is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).

• Intellectual disability
• Seizures
• Global developmental delay
• Cognitive impairment
• Delayed speech and language development

SOURCES: OMIM MENDELIAN

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

SOURCES: OMIM MENDELIAN

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).

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

SOURCES: OMIM MENDELIAN

EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

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

SOURCES: OMIM MENDELIAN

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.

AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 Is also known as chromosome xp22 deletion syndrome

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

SOURCES: OMIM MENDELIAN

FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.

FRAXE INTELLECTUAL DISABILITY Is also known as fraxe mental retardation syndrome|intellectual disability associated with fragile site fraxe

• Intellectual disability
• Global developmental delay
• Short stature
• Microcephaly
• Delayed speech and language development

SOURCES: ORPHANET OMIM MENDELIAN

FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

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

SOURCES: OMIM ORPHANET MENDELIAN

• Intellectual disability
• Global developmental delay
• Ataxia
• Nystagmus
• Cognitive impairment

SOURCES: OMIM MENDELIAN