Global developmental delay, and Fever

Diseases related with Global developmental delay and Fever

In the following list you will find some of the most common rare diseases related to Global developmental delay and Fever that can help you solving undiagnosed cases.

Top matches:

EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Childhood-onset epileptic encephalopathy (EEOC) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability (summary by Carvill et al., 2013).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Fever
  • Encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Motor delay
  • Fever
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

Other less relevant matches:

ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D Is also known as acat2 deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Fever
  • Chorea
  • Increased serum lactate


SOURCES: OMIM MENDELIAN

More info about ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

Medium match WOLMAN DISEASE

Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease (see this term). The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about WOLMAN DISEASE

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Top 5 symptoms//phenotypes associated to Global developmental delay and Fever

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized myoclonic seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Epileptic encephalopathy Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Fever. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized tonic-clonic seizures Febrile seizures Status epilepticus Ataxia Encephalopathy EEG abnormality Developmental regression

Rare Symptoms - Less than 30% cases

Myokymia Hemiclonic seizures Cyanosis Scoliosis Abnormality of the nervous system Spasticity Intellectual disability, severe Delayed speech and language development Tremor Dystonia Absent speech Anemia Myoclonus Hepatomegaly Splenomegaly Motor delay Atonic seizures Absence seizures Cutaneous photosensitivity Pneumonia Autistic behavior Autism Hepatic failure Ascites Abdominal distention Cachexia Cerebral atrophy Adrenal calcification Adrenal insufficiency Hypoplasia of the corpus callosum Severe global developmental delay Bone-marrow foam cells Esophageal varix Steatorrhea Malnutrition Cerebral cortical atrophy Generalized tonic seizures Spastic paraplegia Impaired horizontal smooth pursuit Bruxism Hyperventilation Psychosis Focal-onset seizure Aggressive behavior Hyperactivity Hyperreflexia Cognitive impairment EEG with burst suppression Infantile encephalopathy Dyskinesia Cerebral hypomyelination Growth delay Epileptic spasms CNS hypomyelination Intellectual disability, profound Hypsarrhythmia Spastic tetraplegia Tetraplegia Neurodegeneration Nausea and vomiting Abnormal pyramidal sign Hypofibrinogenemia Involuntary movements Colitis Poor head control Increased serum lactate Chorea Focal clonic seizures Exercise-induced myalgia Muscle stiffness Apnea Increased serum pyruvate Myalgia Halitosis Muscle fibrillation Bilateral ptosis Pectus carinatum Skeletal muscle atrophy Ptosis Ketosis Short stature Hemophagocytosis Aspiration pneumonia Increased serum ferritin Hypertriglyceridemia Neutropenia Hepatosplenomegaly Thrombocytopenia Atypical absence seizures Developmental stagnation Focal impaired awareness seizure Rigidity Aspiration Limb ataxia Myoclonic absences Eyelid myoclonus Cortical myoclonus Hypomimic face Arnold-Chiari type I malformation Bradykinesia Intermittent hyperventilation


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