Cataract, and Acute myeloid leukemia

Diseases related with Cataract and Acute myeloid leukemia

In the following list you will find some of the most common rare diseases related to Cataract and Acute myeloid leukemia that can help you solving undiagnosed cases.


Top matches:

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

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Other less relevant matches:

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS


Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

Low match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Low match MYELOID/LYMPHOID NEOPLASM ASSOCIATED WITH FGFR1 REARRANGEMENT


Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.

MYELOID/LYMPHOID NEOPLASM ASSOCIATED WITH FGFR1 REARRANGEMENT Is also known as 8p11 myeloproliferative syndrome|scll|stem cell leukemia/lymphoma

Related symptoms:

  • Leukemia
  • Lymphoma
  • Eosinophilia
  • Myeloid leukemia
  • Acute myeloid leukemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYELOID/LYMPHOID NEOPLASM ASSOCIATED WITH FGFR1 REARRANGEMENT

Low match MYELODYSPLASTIC SYNDROME; MDS


Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML ). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).

MYELODYSPLASTIC SYNDROME; MDS Is also known as myelodysplastic syndrome, susceptibility to, included

Related symptoms:

  • Anemia
  • Leukemia
  • Myelodysplasia
  • Myeloid leukemia
  • Acute myeloid leukemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYELODYSPLASTIC SYNDROME; MDS

Low match ERYTHROLEUKEMIA, FAMILIAL


Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree (Park et al., 2002).Park et al. (2002) discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML ). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system (Bennett et al., 1985), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system (Harris et al., 1999), it is known as 'AML, not otherwise categorized' (Zini and D'Onofrio, 2004).

ERYTHROLEUKEMIA, FAMILIAL Is also known as di guglielmo disease, familial|leukemia, acute myelogenous, m6

Related symptoms:

  • Anemia
  • Leukemia
  • Leukopenia
  • Myelodysplasia
  • Acute myeloid leukemia


SOURCES: OMIM MESH MENDELIAN

More info about ERYTHROLEUKEMIA, FAMILIAL

Top 5 symptoms//phenotypes associated to Cataract and Acute myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Myelodysplasia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Myeloid leukemia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Acute myeloid leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Failure to thrive Neoplasm Short stature Global developmental delay Hearing impairment Strabismus Hydrocephalus Carcinoma Lymphoma Chromosome breakage Acute monocytic leukemia Ataxia Bone marrow hypocellularity Intrauterine growth retardation Atrial septal defect Seizures Pancytopenia Abnormality of skin pigmentation High palate Telangiectasia Thrombocytopenia Short thumb Visual impairment Aplastic anemia Cleft palate Horseshoe kidney Micrognathia Leukopenia Hypertelorism Headache Cafe-au-lait spot Hypothyroidism Abnormal facial shape Neutropenia Generalized hypotonia

Rare Symptoms - Less than 30% cases


Abnormality of the kidney Osteosarcoma Anemia of inadequate production Astrocytoma Abnormality of the uterus Acute leukemia Arteriovenous malformation Fatigue Congestive heart failure Anal atresia Microphthalmia Oligohydramnios Abnormal heart morphology Nausea and vomiting Hypopigmentation of the skin Recurrent infections Cranial nerve paralysis Chromosomal breakage induced by crosslinking agents Downslanted palpebral fissures Reticulocytopenia Small for gestational age Cryptorchidism Hypospadias Postnatal growth retardation Ventriculomegaly Respiratory distress Partial duplication of thumb phalanx Frontal bossing Immunodeficiency Flexion contracture Hypoplastic anemia Cellulitis Breast carcinoma Triphalangeal thumb Hodgkin lymphoma Multiple cafe-au-lait spots Nystagmus Pain Gliosis Absent thumb Vomiting Glaucoma Weight loss Proptosis Squamous cell carcinoma Abnormal cardiac septum morphology Scoliosis Increased intracranial pressure Hypopigmented skin patches Lipoma Hamartomatous polyposis Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Finger syndactyly Abnormality of the liver Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Generalized hyperkeratosis Tetralogy of Fallot Bruising susceptibility Dolichocephaly Fibroma Toe syndactyly Choanal atresia Abnormality of the foot Papilloma Facial asymmetry Short palpebral fissure Renal agenesis Vertigo Astigmatism Neoplasm of the central nervous system Sloping forehead Hip dislocation Mucosal telangiectasiae Irritability Trichilemmoma Abnormality of the penis Merkel cell skin cancer Angioid streaks of the fundus Ductal carcinoma in situ Ovarian carcinoma Intestinal polyp Conjunctival hamartoma Thyroid adenoma Dysplastic gangliocytoma of the cerebellum Varicocele Lobular carcinoma in situ Follicular thyroid carcinoma Endometrial carcinoma Colorectal polyposis Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Progressive macrocephaly Multiple trichilemmomata Ptosis Abnormality of the eye Upslanted palpebral fissure Hypertrophic cardiomyopathy Decreased proportion of CD4-positive T cells Pes planus Umbilical hernia Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Diabetes mellitus Pseudopapilledema Hypogonadism Azoospermia Severe short stature Clinodactyly of the 5th finger Patent ductus arteriosus Abnormality of cardiovascular system morphology Renal insufficiency Abnormality of the skeletal system Fever Hyperreflexia Hepatomegaly Epicanthus Type I diabetes mellitus Abnormality of femur morphology Renal hypoplasia/aplasia Lethargy Hypoplasia of the radius Abnormal dermatoglyphics Hydrops fetalis Depressed nasal ridge Coarctation of aorta Webbed neck Premature birth Nausea Cleft upper lip Narrow chest Pallor Delayed cranial suture closure Cleft lip Retrognathia Edema Short neck Ventricular septal defect T-cell acute lymphoblastic leukemias Medulloblastoma Peters anomaly Anteriorly placed anus Renal hypoplasia Abnormality of the hand Congenital glaucoma Corneal opacity Branchial cyst Refractory anemia Myeloproliferative disorder Extramedullary hematopoiesis Eosinophilia Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Persistence of hemoglobin F Erythroid hypoplasia Colon cancer Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Increased mean corpuscular volume 11 pairs of ribs Hypoplastic ilia Thrombocytosis Macrocytic anemia Vertebral fusion Esotropia Abnormality of the preputium Reduced bone mineral density Irregular hyperpigmentation Cavernous hemangioma Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the upper limb B-cell lymphoma Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality External ear malformation Aplasia/Hypoplasia of the radius Abnormal aortic valve morphology Absent radius Abnormality of blood and blood-forming tissues Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Abnormality of the hypothalamus-pituitary axis Abnormal renal morphology Pyridoxine-responsive sideroblastic anemia Decreased fertility in males Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Clubbing of toes Abnormal localization of kidney Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Abnormality of chromosome stability Enlarged polycystic ovaries Hemangioma Long penis Ewing sarcoma Abnormality of the dentition Hypertonia Optic atrophy Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Hyphema Alopecia Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Hyporeflexia Cerebellar hypoplasia Soft tissue sarcoma Decreased fetal movement Pterygium Dermal atrophy Anosmia Abnormal intestine morphology Sparse eyelashes Conjunctivitis Truncal ataxia Hyperpigmentation of the skin Sparse scalp hair Cerebral calcification Osteoporosis Decreased testicular size Gastrointestinal hemorrhage Sepsis Cirrhosis Carious teeth Nail dystrophy Muscular hypotonia of the trunk Hepatosplenomegaly Cerebral cortical atrophy Hyperhidrosis Leukocoria Leiomyosarcoma Epiphora Respiratory failure Aciduria Increased serum lactate Brain atrophy Abnormality of movement Attention deficit hyperactivity disorder Abnormal pyramidal sign Developmental regression Neonatal hypotonia Rigidity Hyperactivity Abnormality of extrapyramidal motor function Myoclonus Encephalopathy Cerebral atrophy Dystonia Cerebellar atrophy Cardiomyopathy Dysphagia Feeding difficulties Spasticity Neuronal loss in central nervous system Progressive neurologic deterioration Anisocoria Postural instability Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Uveitis Neurofibromas Sarcoma Anorexia Skin rash Choreoathetosis Visual loss Malar flattening Blindness Congenital neutropenia 3-Methylglutaconic aciduria Dysgraphia Upper motor neuron dysfunction Dyslexia Progressive encephalopathy Opisthotonus Neonatal respiratory distress Flared metaphysis Cellular immunodeficiency Gynecomastia Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Melanoma Drooling Neoplasm of the skin Lymphopenia Exotropia Melanocytic nevus Chronic diarrhea Subcutaneous nodule Broad thumb Intention tremor Overgrowth Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Hand polydactyly Cutis marmorata Polymicrogyria Papilledema Bone cyst Intestinal polyposis Ovarian cyst Furrowed tongue Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Abnormality of the vasculature Macule Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Palmoplantar keratoderma Joint hypermobility Pulmonary fibrosis Esophageal stricture Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Excessive wrinkled skin Generalized hypopigmentation of hair Testicular atrophy Ridged nail Oral leukoplakia Blepharitis Premature loss of teeth Generalized hyperpigmentation Restrictive ventilatory defect Increased antibody level in blood Abnormality of coagulation Premature graying of hair Fragile teeth Split nail Papule Myopathy Intellectual disability, moderate Proximal muscle weakness Narrow mouth Autism Pectus excavatum Dilatation Kyphosis Intellectual disability, mild Diarrhea Tremor Pterygium of nails Macrocephaly Skeletal muscle atrophy Myopia Brachydactyly Motor delay Delayed speech and language development Cognitive impairment Low-set ears Muscle weakness Anal mucosal leukoplakia Refractory anemia with ringed sideroblasts



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypoplasia of the maxilla, related diseases and genetic alterations Rod-cone dystrophy and Unsteady gait, related diseases and genetic alterations Motor delay and Pneumonia, related diseases and genetic alterations Hepatomegaly and Ventriculomegaly, related diseases and genetic alterations Epicanthus and Distal amyotrophy, related diseases and genetic alterations

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