Immunodeficiency, and Hydrocephalus

Diseases related with Immunodeficiency and Hydrocephalus

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


Top matches:

Medium match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Medium match GRISCELLI SYNDROME, TYPE 2; GS2


GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Medium match ALG12-CDG


ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

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Other less relevant matches:

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match FRASER SYNDROME 1; FRASRS1


Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Medium match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Medium match 3C SYNDROME


Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Medium match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Medium 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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Hydrocephalus

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Hypospadias Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Immunodeficiency and Hydrocephalus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Decreased antibody level in blood Cleft palate Scoliosis Muscular hypotonia Short neck Depressed nasal bridge Micrognathia Low-set ears Thrombocytopenia Abnormality of the pinna Cognitive impairment Nystagmus Delayed speech and language development Hypocalcemia Abnormal heart morphology Arthritis Anemia Inguinal hernia Growth delay Macrocephaly Umbilical hernia Recurrent respiratory infections Renal agenesis Behavioral abnormality Bifid uvula Posterior embryotoxon Tetralogy of Fallot Low posterior hairline Blindness Primary amenorrhea Unilateral renal agenesis Frontal bossing Midface retrusion Wide nasal bridge High palate Cleft lip Anal atresia Posteriorly rotated ears Myelomeningocele Ventriculomegaly Strabismus Cataract Micropenis Optic atrophy Peripheral demyelination Abnormality of the skeletal system Ventricular septal defect Atrial septal defect Abnormality of cardiovascular system morphology Patent ductus arteriosus Skeletal dysplasia Pancytopenia Amenorrhea Neurodegeneration Malar flattening Edema Fever Cryptorchidism Epicanthus Respiratory tract infection Impaired T cell function Hepatosplenomegaly High forehead Sepsis Short nose

Rare Symptoms - Less than 30% cases


Perimembranous ventricular septal defect Abnormality of the dentition Dilatation Mandibular prognathia Genu valgum Interrupted aortic arch Aseptic necrosis Graves disease Flexion contracture Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Truncus arteriosus Kyphosis Right aortic arch Spina bifida Duodenal stenosis Dental malocclusion Amblyopia Syndactyly Microphthalmia Conductive hearing impairment Corneal opacity Finger syndactyly Sacral meningocele Underdeveloped nasal alae Muscle weakness Right aortic arch with mirror image branching Anal stenosis Abnormality of the thymus Arteria lusoria Aplasia of the thymus Conotruncal defect Meningocele Retinal vascular tortuosity Delusions Bipolar affective disorder Hypoparathyroidism Blepharophimosis Cerebellar atrophy Hernia Obesity Depressivity Hypothyroidism Retrognathia Arnold-Chiari malformation Mental deterioration Autoimmunity Hypoplasia of the corpus callosum Dysmetria Bulbous nose Bicuspid aortic valve Hemolytic anemia Purpura Chorea Specific learning disability Psychosis Renal dysplasia Intellectual disability, severe Pierre-Robin sequence Vitiligo Psoriasiform dermatitis Hallucinations Autoimmune thrombocytopenia Autoimmune hemolytic anemia Inflammation of the large intestine Prominent forehead Hydronephrosis Abnormality of the kidney Acne Rheumatoid arthritis Schizophrenia Broad forehead Neurological speech impairment Pulmonic stenosis Iris coloboma High, narrow palate Cholelithiasis Narrow palate Abnormality of the hand Nasal speech Anxiety Cranial hyperostosis Ambiguous genitalia Combined immunodeficiency Brachycephaly Splenomegaly Hepatomegaly Spasticity Ataxia Abnormality of neutrophils Generalized edema Cerebellar hypoplasia Communicating hydrocephalus Bronchitis Sensorineural hearing impairment Postnatal growth retardation Feeding difficulties Talipes equinovarus Otitis media Short philtrum Severe global developmental delay Limb undergrowth Macroglossia Intrauterine growth retardation Neoplasm Pneumonia Anteverted nares Feeding difficulties in infancy Failure to thrive Bone marrow hypocellularity Dandy-Walker malformation Generalized tonic-clonic seizures Encephalocele Progressive neurologic deterioration Recurrent bacterial infections Wide nose Oligohydramnios Cranial nerve paralysis Hyperactivity Malabsorption Psychotic episodes Flat face Velopharyngeal insufficiency Giant platelets Leukopenia Reduced tendon reflexes Hypopigmented skin patches Aggressive behavior Paranoia Hyperlipidemia Bronchiectasis Mood swings Dementia Abnormality of movement Central nervous system degeneration Craniosynostosis Broad thumb Short palpebral fissure Coarctation of aorta Polymicrogyria Astigmatism Microtia Attention deficit hyperactivity disorder Telecanthus Vascular ring Narrow mouth Hypertonia Ptosis Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Diarrhea Congenital conductive hearing impairment Congenital cataract Perineal fistula Recurrent pneumonia Platybasia Dysdiadochokinesis Myopathic facies Ascites Hypoplasia of the brainstem Hypopigmentation of the skin Obsessive-compulsive behavior Apathy Open mouth Vomiting Basal ganglia calcification Neutropenia Jaundice Rigidity Lymphadenopathy Lethargy Holoprosencephaly Nausea and vomiting Narrow palpebral fissure Abnormality of the ear Decrease in T cell count Sinusitis Shawl scrotum Lymphopenia Multicystic kidney dysplasia Malnutrition Pulmonary artery atresia Abnormality of the endocrine system Echolalia Protruding tongue Agammaglobulinemia Axonal loss Hearing abnormality Hepatitis Chronic bronchitis Exotropia Abnormal cerebellum morphology Abnormality of chromosome stability Vesicoureteral reflux Submucous cleft hard palate Cellular immunodeficiency Alcoholism Sclerocornea Abnormality of the sternum Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Patellar dislocation Severe sensorineural hearing impairment Limb dystonia Thickened calvaria Femoral bowing Abnormality of the rib cage 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 Craniofacial hyperostosis Abnormal cornea morphology Spastic gait Increased hepatic glycogen content Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased vertebral height Synovitis Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Low anterior hairline Limb ataxia Tetany Parathyroid agenesis Intellectual disability, mild Myopathy Gait disturbance Skeletal muscle atrophy Myopia Dysarthria Hyperreflexia Motor delay Pain Type I truncus arteriosus Parathyroid hypoplasia Areflexia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the middle ear Perisylvian polymicrogyria Albinism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Cerebral atrophy Delayed skeletal maturation Gingival overgrowth Highly arched eyebrow Tall stature Bowing of the long bones Hypertrichosis Depressed nasal ridge Type II diabetes mellitus Optic disc pallor Hip dysplasia Delayed myelination Gliosis Progressive cerebellar ataxia Thick eyebrow Babinski sign Retinal degeneration Confusion Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Pectus carinatum Coarse facial features Osteopenia Kyphoscoliosis Macrotia Gait ataxia Pyloric stenosis Contractures of the large joints Absent speech Difficulty in tongue movements Wide pubic symphysis Midline nasal groove Lacrimal duct aplasia Hypoplastic superior helix Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cryptophthalmos Cleft ala nasi Urethral atresia Abnormality of the small intestine Abnormality of the nares Clinodactyly Upper eyelid coloboma Laryngeal stenosis Abnormality of the anus Bilateral renal agenesis Subglottic stenosis Bilateral microphthalmos Gonadoblastoma Vaginal atresia Severe T-cell immunodeficiency Laryngeal atresia Abnormal cortical gyration Proptosis Osteoarthritis Ectodermal dysplasia Recurrent fractures Short distal phalanx of finger Epiphyseal dysplasia Carious teeth Paralysis Facial palsy Short humerus Abnormality of immune system physiology Visual loss Extension of hair growth on temples to lateral eyebrow IgG deficiency Short tibia Short femur Prolonged partial thromboplastin time Butterfly vertebrae Visual impairment Long philtrum Abnormality of the umbilicus Aplasia/Hypoplasia of the sternum Malformed lacrimal duct Bicornuate uterus Calvarial skull defect Recurrent urinary tract infections Short sternum Polydactyly Renal cyst Generalized myoclonic seizures Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Mild microcephaly Leukemia Acute leukemia Multiple renal cysts Severe intrauterine growth retardation Acute lymphoblastic leukemia Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Hyperpigmentation of the skin Muscular dystrophy Small for gestational age Choanal stenosis Cupped ear Postaxial foot polydactyly Absent eyelashes Foot polydactyly Agenesis of corpus callosum Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Absent eyebrow Anophthalmia Clitoral hypertrophy Cleft upper lip Atresia of the external auditory canal Abnormality of the urinary system Renal hypoplasia/aplasia Cutaneous syndactyly Dental crowding Renal hypoplasia Upslanted palpebral fissure Wide intermamillary distance Postaxial polydactyly Pulmonary hypoplasia Abnormality of the metaphysis Abnormality of epiphysis morphology Premature graying of hair Chorioretinal coloboma Atrioventricular canal defect Abnormality of the hip bone Congenital glaucoma Mesomelia Prominent occiput Hypoplastic left heart Abnormality of neuronal migration Abnormal eyebrow morphology Aplasia/Hypoplasia of the cerebellum Hand polydactyly Abnormal eyelash morphology Edema of the lower limbs White hair Wormian bones Hemivertebrae Horseshoe kidney Aortic valve stenosis Preauricular skin tag Large fontanelles Cerebellar vermis hypoplasia Hypoplasia of penis Narrow nasal bridge Adrenal hypoplasia Growth hormone deficiency Abnormal tricuspid valve morphology Petechiae Iris hypopigmentation Abnormality of lipid metabolism Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Facial hemangioma Intellectual disability, profound Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Lethal skeletal dysplasia Double outlet right ventricle Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Hypoplastic fingernail Mitral stenosis Enlarged cisterna magna Ectopic anus Single umbilical artery Missing ribs Pulmonary infiltrates Hemophagocytosis Intestinal malrotation Lymphedema Abnormal cranial nerve morphology Elevated serum acid phosphatase Abnormal leukocyte morphology Lumbar scoliosis Scrotal hypoplasia Hip osteoarthritis Fractures of the long bones Extramedullary hematopoiesis Generalized osteosclerosis Facial paralysis Osteopetrosis Mandibular osteomyelitis Hypoplasia of the radius Rhinitis Osteomyelitis Hyperostosis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Joint dislocation Increased bone mineral density Bone pain Tooth abscess Abnormality of the vertebral endplates Partial albinism Coloboma Postural instability Reduced delayed hypersensitivity Cutaneous anergy Oral cleft Toe syndactyly Silver-gray hair Melanin pigment aggregation in hair shafts Accumulation of melanosomes in melanocytes Prominent nasal bridge Abnormal cardiac septum morphology Sparse hair Sandal gap Camptodactyly Gastroesophageal reflux Glaucoma Alopecia Cardiomyopathy Abnormality of the genital system Rhizomelia Downslanted palpebral fissures Brachydactyly Progressive microcephaly Spinocerebellar tract disease in lower limbs



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