Autoimmunity, and Cerebral atrophy

Diseases related with Autoimmunity and Cerebral atrophy

In the following list you will find some of the most common rare diseases related to Autoimmunity and Cerebral atrophy that can help you solving undiagnosed cases.


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Low match FADD-RELATED IMMUNODEFICIENCY


FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.

FADD-RELATED IMMUNODEFICIENCY Is also known as fadd deficiency

Related symptoms:

  • Seizures
  • Fever
  • Ventricular septal defect
  • Cerebral atrophy
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about FADD-RELATED IMMUNODEFICIENCY

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Low match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

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Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Low match B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA


B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Low match NEUROMYELITIS OPTICA


Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

NEUROMYELITIS OPTICA Is also known as devic disease

Related symptoms:

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure


SOURCES: MESH ORPHANET MENDELIAN

More info about NEUROMYELITIS OPTICA

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Top 5 symptoms//phenotypes associated to Autoimmunity and Cerebral atrophy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Cerebral atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Thrombocytopenia Anemia Vomiting Hepatomegaly Feeding difficulties Peripheral demyelination Brain atrophy Muscular hypotonia Muscle weakness Failure to thrive Cerebellar atrophy Intellectual disability Nystagmus Generalized hypotonia Neurodegeneration Diarrhea Malabsorption Osteopenia Motor delay Optic atrophy Hyperreflexia Glomerulopathy Encephalitis Systemic lupus erythematosus Dysarthria Delayed skeletal maturation Pneumonia Encephalopathy Spasticity Sensorineural hearing impairment Ataxia Immunodeficiency Kyphosis Abnormality of the dentition Hearing impairment Short neck Gait disturbance Skeletal muscle atrophy Short stature Abnormality of the cerebral white matter Mental deterioration Weight loss Renal insufficiency Nausea Developmental regression Visual loss Respiratory insufficiency Growth delay Pain

Rare Symptoms - Less than 30% cases


Myopia Chronic kidney disease Cellular immunodeficiency Lymphoproliferative disorder Decreased nerve conduction velocity Hemiplegia/hemiparesis Sensory impairment Abnormal nerve conduction velocity B-cell lymphoma Hemiplegia Depressed nasal bridge Hyperthyroidism Lymphoma Scoliosis Hypertelorism Cataract Arthritis Ventriculomegaly Hallucinations Type II diabetes mellitus Psychosis Increased serum lactate Hypertrichosis Postural instability Coma Gingival overgrowth Stage 5 chronic kidney disease Otitis media Recurrent bacterial infections Nausea and vomiting Jaundice Acidosis Osteoporosis Delusions Transient ischemic attack Hip dysplasia Decreased antibody level in blood Intellectual disability, severe Clonus Myopathy Focal segmental glomerulosclerosis Depressivity Areflexia Gait ataxia Psychotic episodes Neutropenia Anxiety Fine hair Corneal opacity Neurological speech impairment Glomerulonephritis Dysmetria Confusion Pancreatitis Gliosis EMG abnormality Hyperkinesis Hypertension Involuntary movements Intellectual disability, profound Abnormality of the liver Nephrotic syndrome Leukodystrophy Leukoencephalopathy Basal ganglia calcification Episodic fever Cerebral calcification Hypothyroidism Diffuse cerebral atrophy Lymphocytosis CSF pleocytosis Dementia Visual impairment Stroke Irritability Tremor Strabismus Nephropathy Elevated hepatic transaminase Generalized-onset seizure Abnormal cerebellum morphology Autoimmune antibody positivity Microcephaly Abnormality of the skeletal system Feeding difficulties in infancy Dystonia Dilatation Migraine Cerebral cortical atrophy Hepatosplenomegaly Muscular hypotonia of the trunk Peripheral neuropathy Proteinuria Hydrocephalus Recurrent respiratory infections Optic disc pallor Generalized myoclonic seizures Cardiomyopathy Protruding ear Congestive heart failure Headache EEG abnormality Cerebral ischemia Blindness Behavioral abnormality Hypertonia Cardiac arrest Growth abnormality Sudden cardiac death Schizophrenia Goiter Hashimoto thyroiditis External ophthalmoplegia Easy fatigability Memory impairment Atopic dermatitis Muscle cramps Drowsiness Reduced consciousness/confusion Macular degeneration Distal arthrogryposis Hypogonadotrophic hypogonadism Pulmonary embolism Atrioventricular block Cachexia Mutism Hypopigmented skin patches Polyneuropathy Posterior subcapsular cataract Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Hirsutism Progressive external ophthalmoplegia Primary adrenal insufficiency Ischemic stroke Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Reduced tendon reflexes Specific learning disability Amenorrhea Cerebral visual impairment Ophthalmoparesis Aphasia Atrial fibrillation Hemiparesis Truncal ataxia Bundle branch block Hyponatremia Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Dysphasia Decreased body weight Purpura Exercise intolerance Mask-like facies Left ventricular hypertrophy Anorexia Bifid scrotum Type I diabetes mellitus Abnormality of retinal pigmentation Vestibular dysfunction Ragged-red muscle fibers Pigmentary retinopathy Vertebral fusion Hypercalciuria Bilateral ptosis Abnormality of the cardiovascular system Personality changes Bilateral sensorineural hearing impairment Aortic aneurysm Thyroiditis Rhabdomyolysis Progressive sensorineural hearing impairment Generalized hirsutism Ventricular hypertrophy Abnormality of mitochondrial metabolism Intestinal obstruction Multiple lipomas Prolonged QT interval Aplasia/Hypoplasia of the cerebellum Pulmonary arterial hypertension Visual field defect Status epilepticus Hyperkalemia Abnormality of immune system physiology Abnormal facial shape Gait imbalance Ovoid vertebral bodies Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Villous atrophy Disproportionate short-trunk short stature Thoracic kyphosis Abnormal immunoglobulin level Spondyloepiphyseal dysplasia Reduced bone mineral density Coarse hair Glomerulosclerosis Epiphyseal dysplasia Nephritis Melanocytic nevus Emphysema Abnormality of the vasculature High pitched voice Combined immunodeficiency Hypermelanotic macule Steatorrhea Multiple cafe-au-lait spots Protuberant abdomen Abnormal T cell morphology Moyamoya phenomenon Hyperlipidemia Cholangitis IgE deficiency Opportunistic infection Agranulocytosis Enlarged tonsils Absence of lymph node germinal center Impaired Ig class switch recombination Decreased T cell activation Cholangiocarcinoma Sclerosing cholangitis Increased IgM level Dysgammaglobulinemia Chronic hepatitis IgM deficiency Stomatitis Agammaglobulinemia Premature arteriosclerosis Recurrent otitis media Anterior pituitary dysgenesis Nephrosclerosis Lateral displacement of the femoral head Carcinoma Hemolytic anemia Sepsis Choreoathetosis Gingivitis Clumsiness Chronic diarrhea IgA deficiency Hepatocellular carcinoma IgG deficiency Recurrent lower respiratory tract infections Azoospermia Atherosclerosis Anterior hypopituitarism Persistence of primary teeth Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Renal Fanconi syndrome Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Writer's cramp Cochlear malformation Proximal tubulopathy Stroke-like episode Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Ileus Muscle fiber atrophy Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Dysesthesia Psychomotor deterioration Edema of the dorsum of hands Progressive night blindness Opacification of the corneal stroma Microdontia Astigmatism Abnormality of skin pigmentation Bulbous nose Premature birth Waddling gait Decreased testicular size Lumbar hyperlordosis Hip dislocation Abnormal lung morphology Abnormal form of the vertebral bodies Heterotopia Abnormality of epiphysis morphology Lymphopenia Bone marrow hypocellularity Platyspondyly Scarring Cochlear degeneration Bilateral intracranial calcifications Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Morphological abnormality of the vestibule of the inner ear Hyperlordosis Morphological abnormality of the inner ear Prominent ear helix Lactic acidosis Intrauterine growth retardation Thin upper lip vermilion Abnormality of the kidney Polymicrogyria Asterixis Peripheral axonal neuropathy Midface retrusion Pectus carinatum Respiratory tract infection Umbilical hernia Coarse facial features Skeletal dysplasia Kyphoscoliosis Macrotia Mandibular prognathia Prominent forehead Babinski sign Inguinal hernia Hernia Malar flattening Hypermetropia Intellectual disability, mild Talipes equinovarus Frontal bossing Macrocephaly Epicanthus Delayed speech and language development Abnormal flash visual evoked potentials Unexplained fevers Decerebrate rigidity CNS demyelination Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Broad forehead Abnormality of the foot Abnormality of the thumb Spastic gait Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Narrow palate Low anterior hairline Limb ataxia Genu valgum Amblyopia Tall stature Bowing of the long bones Progressive neurologic deterioration Depressed nasal ridge Pancytopenia Dental malocclusion Delayed myelination Progressive cerebellar ataxia Macroglossia Highly arched eyebrow Thick eyebrow Retinal degeneration Demyelinating peripheral neuropathy Motor deterioration Abnormality of the sternum Spastic tetraplegia Morphological abnormality of the pyramidal tract Acrocyanosis Progressive encephalopathy Atrophy/Degeneration affecting the brainstem Prolonged neonatal jaundice Congenital glaucoma Petechiae Spastic diplegia Poor head control Cerebral palsy Progressive microcephaly Postnatal microcephaly Abnormality of extrapyramidal motor function Autoamputation Hepatitis Tetraplegia Severe global developmental delay Skin rash Glaucoma Agenesis of corpus callosum Pulmonary artery atresia Hepatic fibrosis Decreased liver function Cholestasis Abnormality of cardiovascular system morphology Ventricular septal defect Vegetative state Multiple gastric polyps Increased CSF protein Sensorimotor neuropathy Autoimmune thrombocytopenia Hyperactive deep tendon reflexes Ankle clonus Progressive spasticity Opisthotonus Global brain atrophy Postural tremor CNS hypomyelination Spastic tetraparesis Spastic paraparesis Paraparesis Horizontal nystagmus Progressive muscle weakness CSF lymphocytic pleiocytosis Frequent falls Tetraparesis Sensory neuropathy Falls Pallor Rigidity Reduced visual acuity Pes cavus Abnormality of metabolism/homeostasis Increased CSF interferon alpha Deep white matter hypodensities Chronic CSF lymphocytosis Chilblains Femoral bowing Thickened calvaria Vertigo Ocular pain Hyporeflexia Arrhythmia Respiratory distress Dysphagia Fatigue Ptosis Myelitis Recurrent singultus Functional abnormality of the bladder Optic neuritis Abnormality of brain morphology Neuritis Neuronal loss in central nervous system Constipation Paraplegia Paralysis Respiratory failure Non-Hodgkin lymphoma Lung adenocarcinoma Chronic lymphatic leukemia Acute leukemia Hodgkin lymphoma Rheumatoid arthritis Lymphadenopathy Leukemia Neoplasm Elevated serum creatine phosphokinase Cerebellar hypoplasia Ornithinuria Attention deficit hyperactivity disorder Ichthyosis Paresthesia Anal atresia Delayed puberty Carious teeth Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Nyctalopia Rod-cone dystrophy Erythema Abnormality of the pinna Apnea Hypertrophic cardiomyopathy Myalgia Photophobia Gastroesophageal reflux Dyspnea Autism Abdominal pain Diabetes mellitus Hypogonadism Myoclonus Argininuria Protein avoidance Bronchitis Abnormal echocardiogram Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Synovitis Decreased pulmonary function Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Generalized abnormality of skin Hypoplastic inferior ilia Pulmonary hemorrhage Leukopenia Oroticaciduria Alveolar proteinosis Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Truncal obesity Malnutrition Abnormality of the coagulation cascade Hyperextensible skin Hyperammonemia Cutis laxa Aminoaciduria Abnormality of the ilium Aciduria Abnormal bleeding Recurrent fractures Metabolic acidosis Cirrhosis Sparse hair Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Impaired memory B cell generation



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