Delayed speech and language development, and Ophthalmoplegia
Diseases related with Delayed speech and language development and Ophthalmoplegia
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Ophthalmoplegia that can help you solving undiagnosed cases.
Top matches:
Low match AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA
ANOA is an autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades (summary by Paul et al., 2017).
Related symptoms:
- Hearing impairment
- Nystagmus
- Visual impairment
- Peripheral neuropathy
- Delayed speech and language development
SOURCES: OMIM
More info about AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOALow match SPINOCEREBELLAR ATAXIA 35; SCA35
Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014).
SPINOCEREBELLAR ATAXIA 35; SCA35 Is also known as ;sca35
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Ataxia
- Nystagmus
- Peripheral neuropathy
SOURCES: ORPHANET DOID OMIM SCTID GARD UMLS MONDO
More info about SPINOCEREBELLAR ATAXIA 35; SCA35Low match ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2; EMPF2
Encephalopathy due to defective mitochondrial and peroxisomal fission-2 is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).For a discussion of genetic heterogeneity of EMPF, see EMPF1 (OMIM ).
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2; EMPF2 Is also known as ;
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: UMLS OMIM ORPHANET MONDO
More info about ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2; EMPF2
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Other less relevant matches:
Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12
COXPD12 is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by Steenweg et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12 Is also known as leukoencephalopathy with thalamus and brainstem involvement and high lactate;ltbl;coxpd12; combined oxidative phosphorylation defect type 12; ltbl
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
SOURCES: MONDO UMLS GARD ORPHANET OMIM
More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12Low match MYOPATHY, CENTRONUCLEAR, 2; CNM2
Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
MYOPATHY, CENTRONUCLEAR, 2; CNM2 Is also known as myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive;ar-cnm
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Generalized hypotonia
- Pica
- Scoliosis
SOURCES: OMIM MESH UMLS ORPHANET SCTID MONDO
More info about MYOPATHY, CENTRONUCLEAR, 2; CNM2Low match MITOCHONDRIAL COMPLEX II DEFICIENCY
Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).
MITOCHONDRIAL COMPLEX II DEFICIENCY Is also known as succinate coq reductase deficiency;isolated mitochondrial respiratory chain complex ii deficiency; isolated succinate-coenzyme q reductase deficiency; isolated succinate-ubiquinone reductase deficiency
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: GARD UMLS ORPHANET SCTID MONDO OMIM MESH DOID
More info about MITOCHONDRIAL COMPLEX II DEFICIENCYLow match CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by van de Kamp et al., 2011).
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 Is also known as creatine deficiency syndrome, x-linked, creatine transporter defect, mental retardation, x-linked, with seizures, short stature, and midface hypoplasia, mental retardation, x-linked, with creatine transport deficiency;creatine transporter deficiency; slc6a8 deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: GARD SCTID MESH DOID OMIM NCIT ORPHANET MONDO UMLS
More info about CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH
Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014).
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH Is also known as angelman-like syndrome, x-linked, mental retardation, microcephaly, epilepsy, and ataxia syndrome;x-linked angelman-like syndrome; x-linked intellectual disability, south african type; x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET MONDO GARD OMIM DOID UMLS MESH SCTID
More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCHLow match MACHADO-JOSEPH DISEASE; MJD
Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).
MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3;sca3, spinocerebellar atrophy iii, azorean neurologic disease, spinopontine atrophy, nigrospinodentatal degeneration
Related symptoms:
- Autosomal dominant inheritance
- Pica
- Ataxia
- Nystagmus
- Ptosis
SOURCES: UMLS OMIM ORPHANET SCTID
More info about MACHADO-JOSEPH DISEASE; MJDLow match CRIGLER-NAJJAR SYNDROME TYPE 1
Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).
CRIGLER-NAJJAR SYNDROME TYPE 1 Is also known as bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; bilirubin-ugt deficiency type 1; hereditary unconjugated hyperbilirubinemia type 1; ugt deficiency type 1
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Delayed speech and language development
- Tremor
More info about CRIGLER-NAJJAR SYNDROME TYPE 1
Top 5 symptoms//phenotypes associated to Delayed speech and language development and Ophthalmoplegia
| Symptoms // Phenotype | % cases |
|---|---|
| Seizures | Common - Between 50% and 80% cases |
| Generalized hypotonia | Common - Between 50% and 80% cases |
| Hyperreflexia | Uncommon - Between 30% and 50% cases |
| Absent speech | Uncommon - Between 30% and 50% cases |
| Spasticity | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Ophthalmoplegia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Ataxia Intellectual disability External ophthalmoplegia Global developmental delay Ptosis Dystonia Visual impairment Nystagmus Autosomal recessive inheritance Infantile onset Optic atrophy Microcephaly Neonatal hypotonia Peripheral neuropathy Cerebellar atrophy Encephalopathy Flexion contracture Skeletal muscle atrophy Dysphagia Hypertonia Cognitive impairment Clonus Motor delay Pica Ophthalmoparesis Failure to thrive Feeding difficulties in infancy Long face Developmental regression Tremor Dysarthria Babinski sign Gait ataxia Unsteady gait Intellectual disability, mild
Rare Symptoms - Less than 30% cases
Cachexia Open mouth Leukoencephalopathy Bradykinesia Increased serum lactate Ragged-red muscle fibers Joint hyperflexibility Mandibular prognathia Pain Abnormal facial shape Lactic acidosis Clumsiness Irritability Parkinsonism Atrophy/Degeneration affecting the brainstem Muscle weakness Infantile muscular hypotonia Short stature Proximal muscle weakness Growth delay Pes cavus Stereotypy Feeding difficulties Myoclonus Generalized muscle weakness Dementia Truncal ataxia Neuronal loss in central nervous system Abnormality of eye movement Abnormality of the eye Intellectual disability, severe Myopathy Hearing impairment Narrow face Epileptic encephalopathy Optic disc pallor Autosomal dominant inheritance Intellectual disability, moderate Abnormal pyramidal sign Difficulty walking Progressive cerebellar ataxia Intention tremor Dysmetric saccades Arrhythmia Progressive Limb ataxia Hypoplasia of the corpus callosum Acidosis Pontocerebellar atrophy Intellectual disability, profound Arthrogryposis multiplex congenita Severe global developmental delay Narrow chest Abnormality of the foot Thick eyebrow Memory impairment Abnormality of the liver Poor speech Sleep disturbance Urinary incontinence X-linked dominant inheritance Generalized seizures Absent Achilles reflex Postnatal microcephaly Decreased body weight Facial-lingual fasciculations Intellectual disability, progressive Aplasia/Hypoplasia of the corpus callosum Drooling Adducted thumb Mutism Involuntary movements Aplasia/Hypoplasia of the cerebellum Abnormal electrooculogram Delirium Deeply set eye Gastroesophageal reflux Autism Biliary tract abnormality Unconjugated hyperbilirubinemia Neonatal hyperbilirubinemia Redundant skin Mask-like facies Language impairment Myopathic facies Oculomotor nerve palsy Chronic constipation Self-mutilation Speech apraxia Ileus Impaired social interactions Urethral stenosis Vocal cord paralysis Duodenal ulcer Abnormality of creatine metabolism Red eye Poor hand-eye coordination Prolonged neonatal jaundice Underfolded superior helices Strabismus Saccadic smooth pursuit Ventriculomegaly Pectus excavatum Cerebral cortical atrophy Macrotia Olivopontocerebellar atrophy Abnormality of the thorax Spastic dysarthria Spinocerebellar tract degeneration Restless legs Downbeat nystagmus Confusion Chronic pain Neurodegeneration Abnormality of extrapyramidal motor function Torsion dystonia Fasciculations Hallucinations Diplopia Impaired vibratory sensation Akinesia Genetic anticipation Spinal muscular atrophy Abnormal cerebellum morphology Progressive external ophthalmoplegia Delusions Abnormality of temperature regulation Low back pain Dilated fourth ventricle Gaze-evoked nystagmus Amyotrophic lateral sclerosis Hypometric saccades Decreased number of peripheral myelinated nerve fibers Back pain Vestibular dysfunction Abnormal autonomic nervous system physiology Urinary bladder sphincter dysfunction Muscle cramps Postural instability Palatal myoclonus Photosensitive tonic-clonic seizures Decreased muscle mass Dysphasia Long nose Bowel incontinence Tongue fasciculations Slender finger Hyperkinesis Dyslexia Abnormality of the nose Happy demeanor Death in early adulthood Inappropriate laughter Conspicuously happy disposition Gliosis Loss of ability to walk in first decade Depressivity Diabetes mellitus Proptosis Rigidity Anxiety Abnormality of movement Distal amyotrophy Leukemia Supranuclear ophthalmoplegia Sensory neuropathy Polyneuropathy Impaired horizontal smooth pursuit Myokymia Left ventricular noncompaction Exotropia Retrognathia Spastic tetraparesis Macrovesicular hepatic steatosis Dysplastic corpus callosum Decreased activity of mitochondrial complex I Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Scoliosis High palate Talipes equinovarus Respiratory insufficiency Kyphosis Congestive heart failure Areflexia Narrow mouth Tetraparesis Facial palsy Protruding ear Dyspnea Hyperlordosis Distal muscle weakness Bifid uvula Waddling gait Left ventricular hypertrophy Progressive muscle weakness Scapular winging Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Dysphonia Cholestasis Hepatic steatosis Bilateral ptosis Neck muscle weakness Edema Rod-cone dystrophy Pallor Papilledema Total ophthalmoplegia Slow progression Mental deterioration Adult onset Dysmetria Falls Frequent falls Torticollis Incoordination Hand tremor Abnormality of the cerebral white matter Pseudobulbar paralysis Abnormality of the orbital region Respiratory failure Visual loss Hypsarrhythmia Inability to walk Severe muscular hypotonia Brisk reflexes Cleft palate Hepatomegaly Hypospadias Pneumonia Abnormality of the genital system Elevated hepatic transaminase Gowers sign Difficulty climbing stairs Aganglionic megacolon Midface retrusion Progressive leukoencephalopathy Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Stress/infection-induced lactic acidosis Decreased activity of mitochondrial complex II Muscular hypotonia Nevus Tics Gait disturbance Abnormality of metabolism/homeostasis Malar flattening Behavioral abnormality Vomiting X-linked recessive inheritance Eclampsia Constipation Hyperactivity Muscular hypotonia of the trunk Aggressive behavior Attention deficit hyperactivity disorder Broad forehead Autistic behavior Hypermetropia Joint hypermobility Chorea Delayed myelination Tall stature Athetosis Choreoathetosis Increased intramyocellular lipid droplets Preeclampsia Generalized amyotrophy Cardiomyopathy Congenital contracture Long fingers Centrally nucleated skeletal muscle fibers Hip contracture Onset Difficulty running Abnormal heart valve morphology Exertional dyspnea Facial diplegia Type 1 muscle fiber predominance Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Small finger Blindness Ketosis Retinopathy Hypertrophic cardiomyopathy Respiratory tract infection Ranula Dilated cardiomyopathy Tetraplegia Generalized myoclonic seizures Pigmentary retinopathy Spastic tetraplegia Mitral regurgitation Leukodystrophy Exercise intolerance Easy fatigability Ketonuria Kernicterus
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