Global developmental delay, and Cognitive impairment

• Intellectual disability
• Seizures
• Global developmental delay
• Abnormal facial shape
• Cognitive impairment

SOURCES: OMIM MESH MENDELIAN

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

ABETAL34V AMYLOIDOSIS Is also known as abetal34v-related amyloidosis|abeta amyloidosis, piedmont type|hchwa, piedmont type|hereditary cerebral hemorrhage with amyloidosis, piedmont type

• Intellectual disability
• Global developmental delay
• Behavioral abnormality
• Dementia
• Stroke

SOURCES: ORPHANET MENDELIAN

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Cognitive impairment

SOURCES: ORPHANET OMIM MENDELIAN

Nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 41; MRX41 Is also known as mental retardation, x-linked 48|mrx48

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Cognitive impairment

SOURCES: OMIM MENDELIAN

• Global developmental delay
• Ataxia
• Nystagmus
• Cognitive impairment
• Cerebellar hypoplasia

SOURCES: OMIM MENDELIAN

• Seizures
• Global developmental delay
• Generalized hypotonia
• Cognitive impairment
• Motor delay

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
• Ataxia

SOURCES: OMIM MENDELIAN

• Global developmental delay
• Generalized hypotonia
• Ataxia
• Hyperreflexia
• Intellectual disability, severe

SOURCES: OMIM MENDELIAN

Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral|bpp|cbps|pmgx

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

SOURCES: OMIM ORPHANET MENDELIAN