Intellectual disability, and Tremor

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

SOURCES: OMIM MESH MENDELIAN

Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

• Intellectual disability
• Global developmental delay
• Ataxia
• Spasticity
• Myopia

SOURCES: OMIM MENDELIAN

HSD10 DISEASE, ATYPICAL TYPE Is also known as syndromic x-linked intellectual disability type 10|hsd10 deficiency, atypical type|x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

• Intellectual disability
• Behavioral abnormality
• Abnormality of movement

SOURCES: MESH ORPHANET MENDELIAN

• Intellectual disability
• Global developmental delay
• Delayed speech and language development
• Tremor
• Intellectual disability, moderate

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Seizures
• Ataxia
• Delayed speech and language development
• Tremor

SOURCES: OMIM MENDELIAN

Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

• Intellectual disability
• Tremor
• Dystonia
• Hyperhidrosis
• Rigidity

SOURCES: OMIM MENDELIAN

Familial adult myoclonic epilepsy-2 is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline (summary by De Fusco et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (OMIM ).

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 Is also known as adcme|bafme2|cortical myoclonic tremor with epilepsy, familial, 2|benign adult familial myoclonic epilepsy 2|cortical myoclonus and epilepsy, autosomal dominant|fcmte2

• Intellectual disability
• Seizures
• Ataxia
• Cognitive impairment
• Tremor

SOURCES: MESH OMIM MENDELIAN

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

SOURCES: OMIM MENDELIAN

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

• Intellectual disability
• Ataxia
• Strabismus
• Dysarthria
• Tremor

SOURCES: OMIM MESH MENDELIAN

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to glucokinase deficiency

• Intellectual disability
• Seizures
• Muscle weakness
• Fatigue
• Diabetes mellitus

SOURCES: ORPHANET MESH OMIM MENDELIAN