Delayed speech and language development, and Hypoglycemia

Diseases related with Delayed speech and language development and Hypoglycemia

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Hypoglycemia that can help you solving undiagnosed cases.


Top matches:

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Motor delay
  • Acidosis
  • Hypoglycemia


SOURCES: OMIM DOID UMLS MONDO

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3

Low match LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad

Related symptoms:

  • Generalized hypotonia
  • Myopathy
  • Feeding difficulties
  • Hepatomegaly
  • Vomiting


SOURCES: UMLS ORPHANET

More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

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Other less relevant matches:

Low match D-GLYCERIC ACIDURIA

D-glyceric aciduria is a rare autosomal recessive metabolic disorder with a highly variable phenotype. Some patients have an encephalopathic presentation, with severe mental retardation, seizures, microcephaly, and sometimes early death, whereas others have a mild phenotype with only mild speech delay or even normal development (summary by Sass et al., 2010).

D-GLYCERIC ACIDURIA Is also known as d-glyceric acidemia, glycerate kinase deficiency;d-glycerate kinase deficiency; d-glyceric acidemia

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM NCIT MESH GARD MONDO SCTID UMLS ORPHANET

More info about D-GLYCERIC ACIDURIA

Low match SHASHI-PENA SYNDROME; SHAPNS

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM MONDO UMLS

More info about SHASHI-PENA SYNDROME; SHAPNS

Low match 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1

Type I MGCA is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: 1 with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic AciduriaMethylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS ), is caused by mutation in the tafazzin gene (TAZ ) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3 ), caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4 ) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5 ), caused by mutation in the DNAJC19 gene (OMIM ) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6 ), caused by mutation in the SERAC1 gene (OMIM ) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7 ), caused by mutation in the CLPB gene (OMIM ) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MCGA (MGCA8 ) is caused by mutation in the HTRA2 gene (OMIM ) on chromosome 2p13. Type IX MCGA (MGCA9 ) is caused by mutation in the TIMM50 gene (OMIM ) on chromosome 19q13.Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003.Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'

3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 Is also known as mga, type i;mga1, 3-methylglutaconyl-coa hydratase deficiency, 3-mg-coa-hydratase deficiency;3-methylglutaconyl-coa hydratase deficiency; 3mg-coa hydratase deficiency; mga1

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: SCTID ORPHANET MONDO MESH OMIM NCIT UMLS GARD DOID

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1

Low match HSD10 MITOCHONDRIAL DISEASE; HSD10MD

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency, 17-beta-hydroxysteroid dehydrogenase x deficiency, 3-hydroxyacyl-coa dehydrogenase ii deficiency, 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, mhbd deficiency, mental retardation, x-linked, syndromic 10;mrxs10, chorioathetosis with mental retardation and abnormal behavior;camr, mental retardation with chorioathetosis and abnormal behavior

Related symptoms:

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


SOURCES: SCTID ORPHANET UMLS OMIM

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK

The Borck type of X-linked syndromic mental retardation is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay, short stature, microcephaly, and poor or absent speech. Patients have dysmorphic facial features, growth hormone deficiency, hypogonadism, and spasticity resulting in difficulty walking or inability to walk. Brain imaging shows thin corpus callosum and reduced white matter volume (summary by Borck et al., 2012).

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

gene led to a 96 to 98% reduction in DK activity.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M Is also known as cdg im;cdgim, dolichol kinase deficiency, dk1 deficiency;cdg syndrome type im; cdg-im; cdg1m; carbohydrate deficient glycoprotein syndrome type im; congenital disorder of glycosylation type 1m; congenital disorder of glycosylation type im; dolichol kinase deficiency; hypotonia and ichthyosis due to dolichol phosphate deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET UMLS MESH OMIM MONDO SCTID GARD

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

Low match TENORIO SYNDROME; TNORS

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO UMLS OMIM

More info about TENORIO SYNDROME; TNORS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Hypoglycemia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Acidosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Hypoglycemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Spastic tetraplegia Nystagmus Spasticity Cerebral cortical atrophy Hyperreflexia Ventriculomegaly Failure to thrive Cerebral atrophy Absent speech Metabolic acidosis Tetraplegia Myopathy Encephalopathy Motor delay Microcephaly Muscular hypotonia of the trunk Hepatomegaly Aggressive behavior Optic atrophy Dystonia Epileptic spasms Infantile onset Spastic tetraparesis Athetosis Growth delay Gait ataxia Hypertonia Cognitive impairment

Rare Symptoms - Less than 30% cases


Diffuse cerebral atrophy Delayed myelination Hearing impairment Leukoencephalopathy Aciduria Sensorineural hearing impairment Dysarthria Short stature Tetraparesis Muscular hypotonia Choreoathetosis Severe global developmental delay Gastroesophageal reflux Hyperactivity Visual loss Febrile seizures Intellectual disability, severe Long face Oxycephaly Macrocephaly Nevus Scoliosis Autosomal dominant inheritance Hypsarrhythmia Myoclonus Arrhythmia Lactic acidosis Broad nasal tip Neurological speech impairment Tremor Rigidity Hypertrophic cardiomyopathy Autistic behavior Feeding difficulties Ataxia Myalgia Cardiomyopathy Attention deficit hyperactivity disorder Abnormal facial shape Hypoplasia of the corpus callosum Long philtrum Obesity Micropenis Hypogonadism Macrotia Autism Delayed puberty Micrognathia Cleft lip Growth hormone deficiency Open mouth Lower limb spasticity Progressive microcephaly Pancreatitis Widely spaced teeth Tall chin Strabismus Raynaud phenomenon Congestive heart failure X-linked dominant inheritance Clonus Stomatitis Developmental regression Retinal degeneration Abnormality of movement Recurrent aphthous stomatitis Chorea Vomiting Large forehead Loss of ability to walk Progressive neurologic deterioration Dehydration Hallucinations Horizontal nystagmus Drooling Agitation Mitochondrial myopathy Restlessness Gastrointestinal dysmotility Splenomegaly Dilatation Delayed cranial suture closure Keratoconjunctivitis sicca Gait disturbance Hydrocephalus Pneumonia Mandibular prognathia Osteopenia Telecanthus Anxiety Apnea Thick eyebrow Abnormal isoelectric focusing of serum transferrin Wide nose Macroglossia Hypertrichosis Syncope Clumsiness Overgrowth Conjunctivitis Keratitis Cerebral palsy Anteverted nares Ketotic hypoglycemia Alopecia Postnatal microcephaly Hyperkeratosis Elevated hepatic transaminase Intellectual disability, mild Dilated cardiomyopathy Dry skin Death in infancy Recurrent pneumonia Sparse and thin eyebrow Inflammatory abnormality of the skin Hypoketotic hypoglycemia Sparse eyelashes Aspiration Severe muscular hypotonia Lipoatrophy Abnormality of coagulation Myocarditis Aplasia/Hypoplasia of the nipples Adactyly Congenital hepatic fibrosis Ichthyosis Hyperchloremic acidosis Blindness Hyperglycinemia Exercise-induced myoglobinuria Nonketotic hypoglycemia Aminoaciduria Optic nerve hypoplasia Neonatal respiratory distress Opisthotonus Poor eye contact Severe failure to thrive Glutaric aciduria Exercise-induced rhabdomyolysis Nonketotic hyperglycinemia Dicarboxylic aciduria Pica Atrial flutter Hypertelorism Ptosis Low-set ears Epicanthus Hypothermia Neonatal hypotonia Hepatocellular necrosis Fatigable weakness Generalized amyotrophy Dysmetria Rod-cone dystrophy Thrombocytopenia Increased serum lactate Focal seizures Cerebellar atrophy Exotropia Amblyopia Brisk reflexes Respiratory distress Skeletal muscle atrophy Intrauterine growth retardation Multifocal seizures Mitochondrial encephalopathy Visual impairment Muscle weakness Mild expressive language delay Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Elevated creatine kinase after exercise Decreased plasma carnitine Atrial septal defect Dysphagia Neurodegeneration Sudden cardiac death Generalized muscle weakness Hepatic steatosis Lethargy Abnormality of the cerebral white matter Unsteady gait Urinary incontinence Progressive cerebellar ataxia Confusion Dementia Memory impairment Progressive visual loss Limb ataxia Spastic paraparesis Paraparesis Short attention span Abnormality of the basal ganglia 3-Methylglutaconic aciduria Progressive forgetfulness Hyperammonemia Coma Abnormality of the skeletal system Highly arched eyebrow Kyphosis Behavioral abnormality Posteriorly rotated ears Osteoporosis Retrognathia Prolonged neonatal jaundice Proptosis Feeding difficulties in infancy Prolonged QT interval Recurrent fractures EMG: myopathic abnormalities Poor speech Muscle stiffness Tachypnea Accelerated skeletal maturation Reduced bone mineral density Nevus flammeus Deep palmar crease Capillary malformation Cardiac arrest Hypoinsulinemia



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