Infantile Onset: Causes & Reasons

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Possible Causes for Infantile Onset

Spinocerebellar Ataxia Type 5

The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C>T at nucleotide position 1438), the proband [ncbi.nlm.nih.gov]

Case of infantile onset spinocerebellar ataxia type 5. Jacob F.D., Ho E.S., Martinez-Ojeda M., Darras B.T., Khwaja O.S. [uniprot.org]

Symptoms often begin in a person's 20s, but age of onset between infancy and 68 years has been reported. [rarediseases.info.nih.gov]

Developmental and Epileptic Encephalopathy Type 2

The boy developed infantile-onset tonic-clonic and tonic seizures, then spasms in clusters. [ncbi.nlm.nih.gov]

A disorder (OMIM:612164) characterised by neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination [medical-dictionary.thefreedictionary.com]

9 (EIEE9) [MIM:300088]: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity [genecards.org]

Developmental and Epileptic Encephalopathy Type 6

Severe myoclonic epilepsy of infancy or Dravet syndrome is a catastrophic infantile-onset epilepsy. [ncbi.nlm.nih.gov]

Abstract Dravet syndrome is a severe infantile-onset epileptic encephalopathy associated with mutations in the sodium channel alpha-1 subunit gene SCN1A. [ncbi.nlm.nih.gov]

BACKGROUND: Dravet syndrome is a devastating infantile-onset epilepsy syndrome with cognitive deficits and autistic traits caused by genetic alterations in SCN1A gene encoding [ncbi.nlm.nih.gov]

Autosomal Recessive Spinocerebellar Ataxia 18

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L: Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial [karger.com]

Infantile onset spinocerebellar ataxia: Infantile onset spinocerebellar ataxia is a rare disorder manifesting at a very early age and was first described in Finland. [wjgnet.com]

[…] included in that classification, use the term "spinocerebellar", and have an autosomal recessive inheritance: [5] Autosomal recessive spinocerebellar ataxia 10 (SCAR10) Infantile-onset [rarediseases.info.nih.gov]

GLUT1 Deficiency Syndrome

Clinical features usually comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly [ncbi.nlm.nih.gov]

GLUT1DS classically presents with infantile-onset epilepsy, progressive microcephaly, developmental delay, ataxia, dystonia, and spasticity, but a minority of patients may [ncbi.nlm.nih.gov]

The “classic” phenotype is severe and comprises infantile-onset epileptic encephalopathy, delayed development, acquired microcephaly, motor incoordination and spasticity. [medical-dictionary.thefreedictionary.com]

Autosomal Recessive Spastic Paraplegia Type 57

[…] with infantile onset progressive pyramidal syndrome with pseudobulbar palsy. [nature.com]

[…] olivopontocerebellar atrophy III, OPCA3, SCA7 ATXN7 autosomal dominant Spinocerebellar Ataxia, Autosomal Recessive 7 SCAR7 TPP1 autosomal recessive Spinocerebellar Ataxia, Infantile-Onset [disorders.eyes.arizona.edu]

Infantile onset spinocerebellar ataxia: Infantile onset spinocerebellar ataxia is a rare disorder manifesting at a very early age and was first described in Finland. [wjgnet.com]

Autosomal Recessive Spinocerebellar Ataxia Type 17

Infantile onset spinocerebellar ataxia: Infantile onset spinocerebellar ataxia is a rare disorder manifesting at a very early age and was first described in Finland. [wjgnet.com]

onset Spinocerebellar ataxia at NIH 's Office of Rare Diseases OMIM: 271245 Spinocerebellar ataxia amyotrophy deafness at NIH 's Office of Rare Diseases Spinocerebellar ataxia [wikidoc.org]

onset spinocerebellar ataxia among others. [bcm.edu]

Richards-Rundle Syndrome

onset Onset in first year of life Onset in infancy [ more ] 0003593 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [rarediseases.info.nih.gov]

[…] cord Degeneration of the spinal cord 0006827 Autosomal recessive inheritance 0000007 Global developmental delay 0001263 Hypogonadism Decreased activity of gonads 0000135 Infantile [rarediseases.info.nih.gov]

Tay-Sachs Disease

In the infantile Tay-Sachs group, the number of atoms influenced by a mutation was generally larger than that in the late-onset Tay-Sachs group in both the main chain and [ncbi.nlm.nih.gov]

There are three forms: Infantile-onset—usually fatal before 5 years of age Juvenile-onset—usually fatal in late childhood or adolescence Adult-onset—may survive up to 60 years [health.cvs.com]

onset of the disease. [news-medical.net]

Isolated Succinate-CoQ Reductase Deficiency

0.67 BP * 35069 Infantile neuroaxonal dystrophy 150 Cases 251304 Infantile onset panniculitis with uveitis and systemic granulomatosis 4 Cases 1186 Infantile onset spinocerebellar [azkurs.org]

CNS Encephalopathy, Adult onset Leber's (LHON) Leigh Longevity MELAS MERRF Myopathy ± CNS PEO Spinal cord Benign infantile mitochondrial myopathy with reversible cytochrome [neuromuscular.wustl.edu]

[…] spastic paralysis 17 Families 457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 2 Cases 391316 Infantile-onset mesial temporal [azkurs.org]

Aromatic L-Amino Acid Decarboxylase Deficiency

In view of his infantile-onset hypotonia, oculogyric crises, and protracted diarrhoea, an autonomic disturbance related to neurotransmitters was suspected. [ncbi.nlm.nih.gov]

Shamshuipo, Hong Kong 2 Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong Abstract A 15-year-old Chinese male with infantile-onset [hkmj.org]

onset Onset in first year of life Onset in infancy [ more ] 0003593 Intermittent hypothermia Intermittent abnormally low body temperature 0005964 Irritability Irritable 0000737 [rarediseases.info.nih.gov]

Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive [mendelian.co]

M - - - - 0 - - MCAHS-2;GPIBD-4 The affected males presented neurological involvement characterized by an infantile-onset epilepsy and encephalopathy, and cutaneous abnormalities [databases.lovd.nl]

Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology. 2010; 75(7):646-53. PMID: 20713952 Deprez, L, et al. [invitae.com]

Mitochondrial Complex 3 Deficiency Nuclear Type 1

onset or even atypical presentations with normal neurologic development. [mendelian.co]

Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, severe early infantile neurologic [se-atlas.de]

Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

[…] muscular hypotonia ; Infantile onset ; Intellectual disability ; Motor delay ; Muscle weakness ; Myopathy ; Neonatal hypotonia ; Scoliosis ; Skeletal muscle atrophy Associated [mousephenotype.org]

The degree of muscular or central nervous system involvement is variable within a spectrum and ranges from severe infantile onset hypotonia with feeding and respiratory complications [invitae.com]

This patient presented with infantile-onset cataracts and fatty liver in addition to proximal muscle weakness. [journals.plos.org]

X-Linked Spinocerebellar Ataxia Type 5

Extreme High Length Alleles : Infantile Onset, Developmental failure, Multisystem involvement (>200) 82. [slideshare.net]

[…] occur in the later degenerative causes of CAC (because the fibers have already crossed and formed synapses with pontine nuclei). 16, 18 Some degenerative diseases, such as infantile-onset [ajnr.org]

301310 Disease ID 668 at NIH 's Office of Rare Diseases Friedreich's ataxia; Spinocerebellar ataxia, Friedreich 229300 Disease ID 6468 at NIH 's Office of Rare Diseases Infantile [en.wikipedia.org]

Pontocerebellar Hypoplasia Type 2D

onset anterior horn cell degeneration resulting in progressive muscle atrophy; resembles infantile spinal muscular atrophy[5] Spinal muscular atrophy with pontocerebellar [en.wikipedia.org]

Diagnosis[edit] Classification[edit] Pontocerebellar hypoplasia is classified as follows:[4] Type OMIM Gene Locus Distinctive features Alternate names PCH1A 607596 VRK1 14q32 Infantile [en.wikipedia.org]

Encephalomyopathic Mitochondrial DNA Depletion Syndrome

It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal [uniprot.org]

He suffered from an extremely rare depletive genetic condition, infantile onset encephalomyopathy mitochondrial DNA depletion syndrome, which causes progressive brain damage [newshub.co.nz]

There are only 16 cases of infantile onset encephalomyopathy mitochondrial DNA depletion syndrome in recorded medical history, with no sufferers known to have made it past [newshub.co.nz]

Autosomal-Recessive Pyridoxine-Refractory Sideroblastic Anemia

onset Onset in first year of life Onset in infancy [ more ] 0003593 Showing of 29 | Last updated: 3/1/2020 Sideroblastic anemia pyridoxine-refractory autosomal recessive [rarediseases.info.nih.gov]

[…] volume 0025066 Hypochromia 0032231 Increased serum ferritin Elevated serum ferritin High ferritin level Increased ferritin Increased serum ferritin level [ more ] 0003281 Infantile [rarediseases.info.nih.gov]

Erythrokeratodermia Variabilis et Progressiva

onset Onset in first year of life Onset in infancy [ more ] 0003593 Patchy palmoplantar keratoderma 0005588 Showing of 8 | Last updated: 2/1/2021 Find a Specialist Find a [rarediseases.info.nih.gov]

[…] recessive inheritance 0000007 Epidermal acanthosis Thickening of upper layer of skin 0025092 Erythema 0010783 Generalized hyperkeratosis 0005595 Hypergranulosis 0025114 Infantile [rarediseases.info.nih.gov]

3-Methylglutaconic Aciduria Type 1

Optic atrophy manifests as decreased visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. [ncbi.nlm.nih.gov]

Optic atrophy is associated with progressive, decreased visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. [ncbi.nlm.nih.gov]

OPA3-related 3-methylglutaconic aciduria is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. [ncbi.nlm.nih.gov]

Developmental and Epileptic Encephalopathy Type 26

onset NCL Neuronal ceroid-lipofuscinosis type 2 (CLN2) Information sheet late-infantile onset NCL Neuronal ceroid-lipofuscinosis type 3 (CLN3) Information sheet Juvenile [labs.gosh.nhs.uk]

9 (EIEE9) [MIM:300088]: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity [genecards.org]

De novo heterozygous mutations in the gene were first described in patients with a severe, infantile-onset epileptic encephalopathy known as Ohtahara syndrome. 1 However, [neurology.org]

Atypical Krabbe Disease due to Saposin A Deficiency

[…] form Metachromatic leukodystrophy, late infantile form Young adult-onset Parkinsonism CLN10 disease Familial pancreatic carcinoma Familial prostate cancer Hereditary breast [csbg.cnb.csic.es]

onset Onset in first year of life Onset in infancy [ more ] 0003593 Respiratory failure 0002878 Respiratory insufficiency Respiratory impairment 0002093 Showing of 11 | Last [rarediseases.info.nih.gov]

Clinical description The infantile form has an onset at 2-6 months of age and is divided into 3 stages. [orpha.net]

Galloway-Mowat Syndrome

The primary features are infantile onset of cerebellar atrophy, microcephaly and proteinuria. [preventiongenetics.com]

onset intellectual disability and cerebellar hypoplasia in a consanguineous family. 61 Jiang C...Wu L 27983999 2017 32 Extending the mutation spectrum for Galloway-Mowat [malacards.org]

Patients with WDR73-positive GAMOS are rarely associated with the typical GAMOS phenotype, but rather present with a predominantly infantile-onset neurodegenerative disease [ojrd.biomedcentral.com]

Mucolipidosis Type 4

onset Onset in first year of life Onset in infancy [ more ] 0003593 Opacification of the corneal stroma 0007759 Optic atrophy 0000648 Progressive neurologic deterioration [rarediseases.info.nih.gov]

Type II can be further divided into an infantile onset form and a more severe congenital onset form. [emedicine.medscape.com]

Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Hypergastrinemia Elevated gastrin in the blood Increased blood gastrin [ more ] 0500167 Infantile [rarediseases.info.nih.gov]

Childhood-Onset Idiopathic Basal Ganglia Calcification

onset ; Intellectual disability, progressive ; Intellectual disability, severe ; Limb joint contracture ; Microcephaly ; Seizures ; Short stature ; Spasticity ; Tetraplegia [mousephenotype.org]

onset Onset in first year of life Onset in infancy [ more ] 0003593 Intellectual disability, progressive Mental retardation, progressive Progressive mental retardation [ [rarediseases.info.nih.gov]

[…] in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity [mendelian.co]

Rigid Spine Syndrome

onset Onset in first year of life Onset in infancy [ more ] 0003593 Limited neck flexion Limited neck flexibility 0005991 Motor delay 0001270 Muscular dystrophy 0003560 Muscular [rarediseases.info.nih.gov]

[…] infant death ( SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy ( Spiekerkoetter et al., 2003 ).Some patients [mendelian.co]

Severe disease is characterized by infantile onset associated with profound hypotonia and respiratory dysfunction requiring continuous assisted ventilation. [ncbi.nlm.nih.gov]

Autosomal Recessive Spinocerebellar Ataxia

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L: Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial [karger.com]

Infantile onset spinocerebellar ataxia: Infantile onset spinocerebellar ataxia is a rare disorder manifesting at a very early age and was first described in Finland. [wjgnet.com]

onset spinocerebellar ataxia MLD, metachromatic leucodystrophy MSU, maple syrup urine disease NCV, nerve conduction velocity PCARP, posterior column ataxia with retinitis [jmg.bmj.com]

Muscular Dystrophy-Dystroglycanopathy Type C12

Heritability: Autosomal recessive inheritance Clinical Modifiers: Infantile onset AKA: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12; MDDGC12, MDDGC12, muscular [monarchinitiative.org]

onset Glycogenosis due to aldolase A deficiency Glycogenosis due to glucose-6-phosphatase deficiency type 1a Glycogenosis due to glucose-6-phosphatase deficiency type 1b [orpha.net]

[…] muscular dystrophy with hypoglycosylation of dystroglycan and mental retardation - (AR) 2.39 GDP-mannose pyrophosphorylase B Congenital muscular dystrophy with fatty liver and infantile-onset [195.83.227.65]

Transient Infantile Hypertriglyceridemia and Hepatosteatosis

Short stature Failure to thrive Hepatomegaly Infantile onset SOURCES: ORPHANET MONDO UMLS OMIM More info about HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI Low match [mendelian.co]

OMIM : 57 Transient infantile hypertriglyceridemia is an autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy [malacards.org]

(HTGTI) [MIM:614480]: An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. [genecards.org]

Developmental and Epileptic Encephalopathy Type 7

while gain-of-function mutations are associated with infantile onset [ 3, 6 ]. [pediatricneurologybriefs.com]

Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology. 2010; 75(7):646-53. PMID: 20713952 Deprez, L, et al. [invitae.com]

KCNQ2 and infantile spasms. A few patients have been described with de novo KCNQ2 mutations and infantile spasms with onset in the first year of life. [epilepsygenetics.net]