Brachydactyly, and Myelodysplasia

Diseases related with Brachydactyly and Myelodysplasia

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


Top matches:

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

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 ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

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Other less relevant matches:

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 OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD


Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

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 ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Myelodysplasia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Myelodysplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm Thrombocytopenia Abnormal heart morphology Failure to thrive Global developmental delay Neutropenia Strabismus Short thumb Bone marrow hypocellularity Atrial septal defect Scoliosis Lymphoma Abnormal cardiac septum morphology Hearing impairment Microphthalmia Hydrocephalus Intrauterine growth retardation Abnormality of cardiovascular system morphology Abnormality of the skeletal system High palate Cataract Generalized hypotonia Leukopenia Coarctation of aorta Gastroesophageal reflux Hypertelorism Cryptorchidism Ventricular septal defect Frontal bossing Cognitive impairment Cleft palate Bruising susceptibility Reticulocytopenia Myeloid leukemia Absent thumb Hypogonadism Seizures Chromosomal breakage induced by crosslinking agents Horseshoe kidney Micrognathia Congestive heart failure Epicanthus Abnormal facial shape Cafe-au-lait spot Pain Pancytopenia Patent ductus arteriosus Acute myeloid leukemia Ventriculomegaly

Rare Symptoms - Less than 30% cases


Recurrent urinary tract infections Cleft lip Tetralogy of Fallot Osteopenia Premature birth Toe syndactyly Cleft upper lip Flexion contracture Fatigue Anal atresia Osteosarcoma Esotropia Chromosome breakage Skeletal dysplasia Hypoplasia of the radius Squamous cell carcinoma Finger syndactyly Triphalangeal thumb Small for gestational age Anemic pallor Arteriovenous malformation Prolonged G2 phase of cell cycle Complete duplication of thumb phalanx Duplicated collecting system Absent radius Ectopic kidney Hypergonadotropic hypogonadism Hyperreflexia Abnormality of the upper limb Renal agenesis Abnormality of skin pigmentation Syndactyly Aplastic anemia Abnormality of femur morphology Severe short stature Conductive hearing impairment Ataxia Weight loss Hypertension Osteoarthritis Abnormality of the kidney Arthralgia Deficient excision of UV-induced pyrimidine dimers in DNA Hypoplastic anemia Partial duplication of thumb phalanx Abnormality of the nervous system Nausea and vomiting Telangiectasia Webbed neck Short neck Headache Downslanted palpebral fissures Fever Hypertrophic cardiomyopathy Dilatation Azoospermia Neuroblastoma Abnormality of blood and blood-forming tissues Postnatal growth retardation Sparse hair Depressed nasal bridge Pectus excavatum Vomiting Edema Sensorineural hearing impairment Facial asymmetry Bicuspid aortic valve Proptosis Hypotrichosis Nystagmus Ptosis Pulmonic stenosis Abnormal carotid artery morphology Abnormality of nervous system morphology Primary hypothyroidism Duodenal stenosis Decreased fertility in males Meckel diverticulum Clubbing of toes Low-grade fever Almond-shaped palpebral fissure Periventricular leukomalacia Aplasia cutis congenita of scalp Compensated hypothyroidism Aplasia/Hypoplasia of the iris Absent testis Porencephalic cyst Neoplasm of head and neck Obesity Confusion Micromelia Joint hyperflexibility Scarring Esophageal varix Hyperlordosis Apnea Rigidity Midface retrusion Aplasia/Hypoplasia of the uvula Malar flattening Macrocephaly Congenital hepatic fibrosis Motor delay Delayed speech and language development Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Chylothorax Acute monocytic leukemia Abnormal aortic morphology Hyperinsulinemia Aplasia/Hypoplasia of the radius Acrania Multiple cafe-au-lait spots Hydroureter Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Aplasia cutis congenita over posterior parietal area Abnormality of the urinary system External ear malformation Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Type I diabetes mellitus Spina bifida Abnormal vertebral morphology Insulin resistance Irregular hyperpigmentation Hearing abnormality Abnormality of chromosome stability Abnormality of the testis Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Pulmonary artery atresia Aplastic/hypoplastic toenail Bicornuate uterus Abnormality of the thumb Absent hand Abnormality of the uterus Abnormal eyelid morphology Absent fingernail Venous malformation Abnormal pulmonary valve morphology Absent toe Cutis marmorata telangiectatica congenita Periventricular cysts B-cell lymphoma Imperforate hymen Abnormality of the ulna Oral cleft Talipes Sleep disturbance Split hand Short distal phalanx of finger Recurrent ear infections Ascites Gastrointestinal hemorrhage Myelopathy Nail dysplasia Pulmonary arterial hypertension Small nail Hemiparesis Hypoxemia Multiple epiphyseal dysplasia Cirrhosis Cor pulmonale Central apnea Encephalocele Dysuria Upper airway obstruction Pachygyria Communicating hydrocephalus Aortic valve stenosis Generalized joint laxity Meningitis Polymicrogyria Thoracolumbar kyphosis Osteopetrosis Trident hand EEG abnormality Cerebellar hypoplasia Alopecia Hypertonia Hypoplasia of the corpus callosum Talipes equinovarus Muscular hypotonia Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Limited hip extension Chronic myelogenous leukemia Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Abnormality of the metacarpal bones Portal hypertension Otitis media Rhizomelia Disproportionate short-limb short stature Short long bone Pulmonary artery stenosis Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Double outlet right ventricle Clonus Short toe Abnormal lung morphology Abnormality of pelvic girdle bone morphology Calvarial skull defect Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormality of the lower limb Recurrent otitis media Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Prominent nasal bridge Overgrowth Tinnitus Central hypotonia Cutis marmorata Bowel incontinence Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Disproportionate short stature Tibial bowing Supernumerary nipple Limited elbow extension Short femoral neck Oligodactyly Hypoplastic left heart Cortical dysplasia Aplasia/Hypoplasia of the skin Flared metaphysis Spondyloepiphyseal dysplasia Cutaneous finger syndactyly Chronic otitis media Epiphyseal dysplasia Back pain Aplasia cutis congenita Genu varum Hypoplastic fingernail Narrow palpebral fissure Aganglionic megacolon Lymphangioma Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Optic disc hypoplasia Reduced factor XIII activity Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Gonadal neoplasm Nasogastric tube feeding Arnold-Chiari type I malformation Nail dystrophy Poikiloderma Absent eyelashes Prematurely aged appearance Basal cell carcinoma Absent eyebrow Brittle hair Cutaneous photosensitivity Microdontia Palmoplantar keratoderma Diarrhea Preductal coarctation of the aorta T-cell acute lymphoblastic leukemias Medulloblastoma Peters anomaly Acute leukemia Lipoma Anteriorly placed anus Breast carcinoma Renal hypoplasia Corneal opacity Postductal coarctation of the aorta Malignant hyperthermia Gonadal dysgenesis Hypoplasia of teeth Posteriorly rotated ears Abnormal bleeding Abdominal distention Triangular face High, narrow palate Broad forehead Low-set, posteriorly rotated ears Kyphoscoliosis Polyhydramnios Abdominal pain Rod-cone dystrophy Wide intermamillary distance Constipation Clinodactyly Hernia Splenomegaly Intellectual disability, mild Cardiomyopathy Myopia Feeding difficulties Low-set ears Dental malocclusion Amenorrhea Abnormality of the vertebral column Failure to thrive in infancy Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Patent foramen ovale Elevated alkaline phosphatase Ventricular hypertrophy Pterygium Poor suck Arnold-Chiari malformation Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Low posterior hairline Concave nasal ridge Glaucoma Abnormality of the genital system Atopic dermatitis Hypotelorism Brachycephaly Delayed skeletal maturation Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Combined immunodeficiency Hepatomegaly Glomerulonephritis Recurrent skin infections Vasculitis Lymphopenia Bronchiectasis Inflammatory abnormality of the skin Eczema Sensory impairment Asthma Visual impairment Respiratory distress Erythema Hip dislocation Choanal atresia Short palpebral fissure Oligohydramnios Sloping forehead Hypopigmentation of the skin Vertigo Astigmatism Abnormality of the foot Dolichocephaly Abnormality of the liver Renal insufficiency Irritability Abnormality of the eye Carcinoma Pes planus Umbilical hernia Hypothyroidism Diabetes mellitus Upslanted palpebral fissure Clinodactyly of the 5th finger Hypospadias Hemolytic anemia Respiratory tract infection Retrognathia Vertebral fusion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Anemia of inadequate production Increased mean corpuscular volume 11 pairs of ribs Hypoplastic ilia Thrombocytosis Macrocytic anemia Colon cancer Erythroid hypoplasia Congenital glaucoma Delayed cranial suture closure Abnormality of the hand Abnormal dermatoglyphics Hydrops fetalis Depressed nasal ridge Nausea Narrow chest Lethargy Pallor Everted upper lip vermilion Branchial cyst Myoclonus Patellar dislocation Recurrent respiratory infections Hyporeflexia Recurrent infections Immunodeficiency Dysarthria Short 2nd finger T-cell lymphoma Chronic lymphatic leukemia Lymphoproliferative disorder Abnormality of digit Persistence of hemoglobin F Broad hallux Mild short stature Adducted thumb Postaxial polydactyly Polydactyly Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Aplasia cutis congenita on trunk or limbs



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Everted lower lip vermilion, related diseases and genetic alterations Dysarthria and Hypopigmentation of the skin, related diseases and genetic alterations

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