Anemia, and Choanal atresia

Diseases related with Anemia and Choanal atresia

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


Top matches:

Low match DIAMOND-BLACKFAN ANEMIA 10; DBA10


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).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Low match BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

Low match DIAMOND-BLACKFAN ANEMIA 7; DBA7


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).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

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Other less relevant matches:

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1


Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD 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 CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Anemia and Choanal atresia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Choanal atresia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Neoplasm Ventricular septal defect Hydrocephalus Failure to thrive Global developmental delay Thrombocytopenia Intellectual disability Scoliosis Abnormality of the skeletal system Anal atresia Short thumb Nystagmus Hypospadias Abnormal heart morphology Recurrent urinary tract infections Microcephaly Vesicoureteral reflux Ectopic kidney Patent ductus arteriosus Seizures Frontal bossing Pneumonia Small for gestational age Tetralogy of Fallot Prominent nasal bridge Abnormality of the kidney Pancytopenia Triphalangeal thumb Optic atrophy Postnatal growth retardation Hypertelorism Abnormal cardiac septum morphology Hydronephrosis Facial asymmetry Aplasia/Hypoplasia of the radius Absent radius Tracheoesophageal fistula Hypoplasia of the radius Conductive hearing impairment Abnormality of cardiovascular system morphology Strabismus Cryptorchidism Reticulocytopenia Abnormal facial shape Low-set ears High palate Respiratory tract infection Proptosis Neutropenia Congenital diaphragmatic hernia Abnormal vertebral morphology Lymphoma Atrial septal defect

Rare Symptoms - Less than 30% cases


Large fontanelles Non-midline cleft lip Syndactyly Hearing abnormality Abnormal eyelid morphology Renal dysplasia Abnormality of the genital system Renal agenesis Talipes equinovarus Ptosis B-cell lymphoma Finger syndactyly Abnormality of chromosome stability Anorectal anomaly Fever Hand oligodactyly Low-set, posteriorly rotated ears Congestive heart failure Absent thumb Abnormal localization of kidney Chromosome breakage Hip dislocation Toe syndactyly Hypertrophic cardiomyopathy Astigmatism Oligodactyly Vertigo Craniosynostosis Narrow mouth Brachycephaly Prominent forehead Behavioral abnormality Myopia Epicanthus Severe short stature Spina bifida Abnormality of the urinary system Choanal stenosis Bone marrow hypocellularity Low anterior hairline Aganglionic megacolon Clinodactyly of the 5th finger Macrocephaly Hepatomegaly Feeding difficulties Hypoplasia of the ulna Perineal fistula Headache Supernumerary ribs Rectovaginal fistula Deep philtrum Pulmonary hypoplasia Prominent nose Increased mean corpuscular volume Horseshoe kidney Depressed nasal bridge Short neck Retrognathia Leukemia Polyhydramnios Recurrent infections Otitis media Hernia Midface retrusion Cleft upper lip Esophagitis Atresia of the external auditory canal Ataxia Respiratory distress Cardiomyopathy Sloping forehead Respiratory insufficiency Telangiectasia Lymphopenia Cataract Hyperactivity Cafe-au-lait spot Upslanted palpebral fissure Leukopenia Macrocytic anemia Myeloid leukemia Torticollis Hydroureter Squamous cell carcinoma Glucose intolerance Myelodysplasia Short sternum Abnormality of vision Reduced bone mineral density Perimembranous ventricular septal defect Hypopigmented skin patches Phocomelia Hyperinsulinemia Abnormality of the ulna Multiple cafe-au-lait spots Bicornuate uterus Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Hypoplastic labia majora Abnormality of the gastrointestinal tract Optic nerve coloboma Thick upper lip vermilion Recurrent hypoglycemia Volvulus Acute monocytic leukemia Abnormality of femur morphology Abnormality of the thumb Acute myeloid leukemia Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb Panhypopituitarism Arteriovenous malformation Peters anomaly Absent hand External ear malformation Irregular hyperpigmentation Abnormality of blood and blood-forming tissues Gastroparesis Hypertropia Renal hypoplasia/aplasia Renal insufficiency Umbilical hernia Hypothyroidism Weight loss Diabetes mellitus Otitis media with effusion Hypogonadism Reduced renal corticomedullary differentiation Abnormality of the umbilicus Microphthalmia Ventriculomegaly Carcinoma Fatigue Hypoplastic radial head Hyperreflexia Visual impairment Unilateral radial aplasia Aphalangy of the hands Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Pes planus Abnormality of the eye Curly eyelashes Short palpebral fissure Cranial nerve paralysis Azoospermia Type I diabetes mellitus Hypoplastic male external genitalia Esophageal stenosis Abnormal aortic morphology Left-to-right shunt Hypergonadotropic hypogonadism Insulin resistance Oligohydramnios Irritability Hypopigmentation of the skin Bruising susceptibility Abnormality of skin pigmentation Abnormality of the foot Projectile vomiting Dolichocephaly Duplication of internal organs Abnormality of the liver Malrotation of colon Aspiration pneumonia Complete duplication of thumb phalanx Abnormality of nervous system morphology Tricuspid regurgitation Downturned corners of mouth Self-injurious behavior Hirsutism Thick eyebrow Thin vermilion border Micromelia Pulmonic stenosis Synophrys Proximal placement of thumb Clubbing Cutis marmorata Small hand Autistic behavior Short middle phalanx of finger 2-3 toe syndactyly Opisthotonus Limited elbow extension Pallor Limited shoulder movement Abnormality of the pinna Camptodactyly Abnormality of digit High, narrow palate Highly arched eyebrow Aggressive behavior Microdontia Spontaneous abortion Elbow flexion contracture Increased body weight Aspiration Long eyelashes Hypertrichosis Low posterior hairline Renal hypoplasia Blue sclerae High myopia Webbed neck Single transverse palmar crease Relative macrocephaly Sepsis Incoordination Triangular face Short metatarsal Renal cyst Microcornea Pyloric stenosis Delayed eruption of teeth Sleep disturbance Tapered finger Telecanthus Proteinuria Primary hypothyroidism Absent testis 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 Hiatus hernia Almond-shaped palpebral fissure Compensated hypothyroidism Hypoplastic anemia Pyridoxine-responsive sideroblastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Widely spaced teeth Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Poor appetite Abnormality of the preputium Hypoglycemia Ectrodactyly Thin upper lip vermilion Weak cry Dislocated radial head Gastroesophageal reflux Mandibular prognathia Hypoplastic nipples Autism Glaucoma Hyperhidrosis Delayed skeletal maturation Inguinal hernia Generalized hypotonia Clinodactyly Long philtrum Hypertonia Abnormality of the dentition Vomiting Intellectual disability, severe Anteverted nares Wide nasal bridge Hypertension Delayed speech and language development Sensorineural hearing impairment Persistent cloaca Secondary hyperparathyroidism Bicoronal synostosis Medulloblastoma Dysgammaglobulinemia Penoscrotal hypospadias Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Recurrent sinopulmonary infections Mastoiditis Recurrent bronchitis Acute leukemia Acute lymphoblastic leukemia Anal stenosis Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Combined immunodeficiency Malar prominence Progressive vitiligo Premature ovarian insufficiency Hemivertebrae Dextrocardia Preaxial hand polydactyly Unilateral renal agenesis Bifid scrotum Radioulnar synostosis Preaxial polydactyly Laryngomalacia Tachypnea Abnormality of the outer ear Multicystic kidney dysplasia Situs inversus totalis Dysphagia Preauricular skin tag Omphalocele Small nail Abnormality of the ribs Ambiguous genitalia Hypoplasia of penis Premature birth Intestinal malrotation Tachycardia Polydactyly Abnormality of neuronal migration Cachexia Right bundle branch block Recurrent upper respiratory tract infections Secundum atrial septal defect Recurrent lower respiratory tract infections Sprengel anomaly Recurrent otitis media Osteopenia Osteoporosis Noncompaction cardiomyopathy Agammaglobulinemia Upper limb undergrowth Neurodevelopmental delay Rhizomelia Vitamin D deficiency Gingival overgrowth Eczema Dry skin Mandibulofacial dysostosis Cleft soft palate Broad neck Microtia Jaundice Posteriorly rotated ears Malar flattening Fetal distress Small hypothenar eminence Recurrent pneumonia Hemolytic anemia Abnormality of the hair Sinusitis Bronchiectasis Chronic diarrhea Abnormality of the face Primary amenorrhea Cutaneous photosensitivity Amenorrhea Convex nasal ridge Neurodegeneration Attention deficit hyperactivity disorder Uterine neoplasm Mental deterioration Intellectual disability, moderate Abnormality of the nervous system Macrotia Respiratory failure Recurrent respiratory infections Immunodeficiency Diarrhea Skeletal muscle atrophy Muscle weakness Bundle branch block Hypoplastic left heart Aplasia of metacarpal bones Bifid uvula Narrow nasal bridge Hallux valgus Trigonocephaly Failure to thrive in infancy Abnormality of the metacarpal bones Spina bifida occulta Narrow face Bowing of the long bones Hypotelorism Underdeveloped nasal alae Polymicrogyria Aplasia/Hypoplasia of the thumb Malabsorption Broad forehead Skin rash Agenesis of corpus callosum Short nose Downslanted palpebral fissures Motor delay Sandwich appearance of vertebral bodies Progressive macrocephaly Extramedullary hematopoiesis Anteriorly placed anus Short humerus Facial paralysis Patellar hypoplasia Bilateral radial aplasia Flat forehead Urogenital fistula Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Anterior plagiocephaly Fibular hypoplasia Oxycephaly Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Poikiloderma Osteosarcoma Coronal craniosynostosis Shallow orbits Carpal synostosis Abnormality of the ureter Tetany Osteopetrosis Vertebral segmentation defect Atelectasis Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Tethered cord Cavernous hemangioma Ureteropelvic junction obstruction Abnormality of female internal genitalia Abnormality of the pancreas Duodenal atresia Abnormality of the urethra Tracheal stenosis Single umbilical artery Missing ribs Aplasia/Hypoplasia of the lungs Esophageal atresia Anencephaly Wheezing Occipital encephalocele Transposition of the great arteries Abnormality of the sternum Abnormality of the intervertebral disk Absence of the sacrum Retinal atrophy Decreased antibody level in blood Renal tubular acidosis Hyperparathyroidism Pathologic fracture Osteomyelitis Flared metaphysis Ophthalmoparesis Elevated alkaline phosphatase Coxa vara Hypocalcemia Increased bone mineral density Carious teeth Hemifacial hypoplasia Facial palsy Hepatosplenomegaly Acidosis Visual loss Splenomegaly Blindness Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Potter facies Abnormality of the gallbladder Dysplastic tricuspid valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Blepharophimosis, related diseases and genetic alterations Hyperreflexia and Hepatosplenomegaly, related diseases and genetic alterations Myopathy and Joint hypermobility, related diseases and genetic alterations Skeletal muscle atrophy and Stereotypy, related diseases and genetic alterations High palate and Macroglossia, related diseases and genetic alterations

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