Delayed speech and language development, and Pneumonia

Diseases related with Delayed speech and language development and Pneumonia

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


Top matches:

Medium match FG SYNDROME 2; FGS2

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Delayed speech and language development
  • Macrocephaly


SOURCES: OMIM UMLS GARD MONDO

More info about FG SYNDROME 2; FGS2

Medium match RETINITIS PIGMENTOSA 71; RP71

Related symptoms:

  • Autosomal recessive inheritance
  • Scoliosis
  • Delayed speech and language development
  • Blindness
  • Abnormality of the skeletal system


SOURCES: OMIM UMLS

More info about RETINITIS PIGMENTOSA 71; RP71

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14

Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MONDO UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14

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Other less relevant matches:

Medium match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MONDO UMLS

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Medium match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Autosomal dominant inheritance
  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Tics


SOURCES: MESH MONDO OMIM UMLS

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Medium 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; COXPD12

Medium match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as nucleoside phosphorylase deficiency;pnp deficiency; pnpase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: SCTID NCIT OMIM ORPHANET DOID MESH GARD UMLS MONDO ICD10

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Medium match JOUBERT SYNDROME 14; JBTS14

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Hypertelorism


SOURCES: DOID UMLS OMIM MONDO

More info about JOUBERT SYNDROME 14; JBTS14

Medium match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as dpd deficiency, dpyd deficiency, thymine-uraciluria, hereditary, pyrimidinemia, familial;familial pyrimidinemia

Related symptoms:

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


SOURCES: NCIT ORPHANET MONDO MESH OMIM DOID GARD SCTID

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Medium match ARTS SYNDROME; ARTS

Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy (de Brouwer et al., 2007). Susceptibility to infections, especially of the upper respiratory tract, can result in early death.

ARTS SYNDROME; ARTS Is also known as mental retardation, x-linked, syndromic, arts type;mrxsarts, ataxia, fatal x-linked, with deafness and loss of vision, mental retardation, x-linked, syndromic 18;mrxs18;arts syndrome

Related symptoms:

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


SOURCES: MONDO DOID GARD OMIM UMLS SCTID MESH ORPHANET

More info about ARTS SYNDROME; ARTS

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Seizures Intellectual disability Tetraplegia Spasticity Ataxia Motor delay Muscular hypotonia Neonatal hypotonia Immunodeficiency Encephalopathy Microcephaly Nystagmus

Rare Symptoms - Less than 30% cases


Frontal bossing Hepatomegaly Visual impairment Cerebral cortical atrophy Microphthalmia Irritability Hypoplasia of the corpus callosum Developmental regression Hyperreflexia Ptosis Milia Optic atrophy Strabismus Autosomal dominant inheritance Polydactyly Recurrent pneumonia Infantile onset Babinski sign Splenomegaly Diarrhea Elevated hepatic transaminase Spastic tetraplegia Spastic tetraparesis Lymphopenia Tetraparesis Recurrent infections Agenesis of corpus callosum Recurrent upper respiratory tract infections Coloboma Intellectual disability, severe Low-set ears Epicanthus Hypertension Downslanted palpebral fissures High forehead Hydrocephalus Malar flattening Deeply set eye Prominent nasal bridge Short philtrum Posteriorly rotated ears Gout Hypouricemia Hypertelorism Recurrent lower respiratory tract infections Tremor Behavioral abnormality Abnormal pyramidal sign Lymphoma Otitis media Sinusitis Recurrent urinary tract infections Recurrent bacterial infections Spastic diplegia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Increased urinary hypoxanthine Pica Recurrent viral infections Impaired T cell function Highly arched eyebrow Abnormal T cell morphology Autoimmune neutropenia Pure red cell aplasia Brain abscess Recurrent opportunistic infections Cerebral vasculitis Lymph node hypoplasia Abnormality of B cell physiology Renal cyst Meningocele Postaxial polydactyly Dysphagia Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Uraciluria Hearing impairment Parietal cortical atrophy Sensorineural hearing impairment Cognitive impairment Pancreatic fibrosis Peripheral neuropathy Low frustration tolerance Arnold-Chiari type I malformation Respiratory insufficiency Aspiration pneumonia Intellectual disability, mild Hyporeflexia Elevated serum creatine phosphokinase Areflexia X-linked recessive inheritance Visual loss Aggressive behavior Death in infancy Progressive visual loss Sensorimotor neuropathy Progressive muscle weakness Decreased nerve conduction velocity Muscle mounding Diffuse cerebral atrophy Open mouth Fever Encephalocele Dandy-Walker malformation Tented upper lip vermilion Cephalocele Molar tooth sign on MRI Retinal coloboma Occipital encephalocele Drooling Multiple renal cysts Breathing dysregulation Morning glory anomaly Neoplasm Hypertonia Hypoventilation Coma Cerebral atrophy Thrombocytopenia Alopecia Hyperactivity Autism Weight loss Lethargy Iris coloboma Febrile seizures Leukopenia Aspiration Breast carcinoma Ventriculomegaly Acidosis Decreased activity of mitochondrial complex III Involuntary movements Pruritus Gliosis Delayed myelination Focal seizures Generalized myoclonic seizures Neuronal loss in central nervous system Hypsarrhythmia Epileptic encephalopathy Status epilepticus Cyanosis Progressive microcephaly Poor eye contact Clonus Epileptic spasms Developmental stagnation Muscle fibrillation Flushing Focal motor seizures Multifocal seizures Short stature Micrognathia Abnormal facial shape Myopathy Intrauterine growth retardation Apnea Muscular hypotonia of the trunk Cerebellar hypoplasia Abnormality of the skeletal system Macrocephaly Constipation Oxycephaly Prominent forehead Protruding ear X-linked inheritance Anteriorly placed anus Large forehead Underdeveloped superior crus of antihelix Scoliosis Blindness Obesity Myoclonus Rod-cone dystrophy Nyctalopia Optic disc pallor Hypercholesterolemia Pancreatitis Attenuation of retinal blood vessels Drusen Epiretinal membrane Macular hole Arrhythmia Progressive Cardiomyopathy Severe short stature Decreased activity of mitochondrial complex IV Abnormality of the genital system Heat intolerance Conical tooth Lymphocytosis Hidrotic ectodermal dysplasia Recurrent infection of the gastrointestinal tract Anhidrotic ectodermal dysplasia Periorbital wrinkles Aplasia of the sweat glands Cleft palate Dystonia Hypospadias Abnormality of the cerebral white matter Agammaglobulinemia Lactic acidosis Ophthalmoplegia Hepatic steatosis Increased serum lactate Bradykinesia Cholestasis Leukoencephalopathy Ragged-red muscle fibers Macrovesicular hepatic steatosis Dysplastic corpus callosum Decreased activity of mitochondrial complex I Concave nasal ridge Anhidrosis Craniosynostosis Recurrent respiratory infections Short foot Round face Small hand Prominent nose Sloping forehead Cortical gyral simplification Partial agenesis of the corpus callosum Mild short stature Restrictive cardiomyopathy Metaphyseal sclerosis Tics Arthritis Leukocytosis Hepatosplenomegaly Respiratory tract infection Sparse hair Dry skin Hypodontia Ectodermal dysplasia Sparse scalp hair Fine hair Bronchiectasis Hypohidrosis Chronic diarrhea Spinal cord posterior columns myelin loss


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