Anemia, and Coarctation of aorta

Diseases related with Anemia and Coarctation of aorta

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


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Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

Low match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

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

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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 HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Low 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

Top 5 symptoms//phenotypes associated to Anemia and Coarctation of aorta

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Coarctation of aorta. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Seizures Growth delay Short stature Ventricular septal defect Strabismus Cleft palate Ptosis Patent ductus arteriosus Edema Intrauterine growth retardation Failure to thrive Vomiting Abnormal facial shape Abnormality of cardiovascular system morphology Hypertelorism Spina bifida Leukemia Abnormality of the kidney Respiratory distress Hearing impairment Hypertension Attention deficit hyperactivity disorder Microcephaly Nausea Hypoplasia of the radius Asthma Scoliosis Neoplasm Behavioral abnormality Hepatosplenomegaly Cognitive impairment Lethargy Cleft lip Abnormal cardiac septum morphology Abnormality of the skeletal system Depressed nasal bridge Fatigue Tetralogy of Fallot Glaucoma

Rare Symptoms - Less than 30% cases


Lactose intolerance Tibial torsion Phocomelia Anomalous pulmonary venous return Abnormality of the cardiovascular system Complete atrioventricular canal defect Allergy Seborrheic dermatitis Gastrointestinal hemorrhage Mitral valve prolapse Absent radius Absent thumb Horseshoe kidney Eosinophilia Cataract Aplastic anemia Hypoplastic left heart Partial duplication of thumb phalanx Aplasia of the uterus Broad thumb Spasticity Severe global developmental delay Blindness Pneumonia Agenesis of corpus callosum Kyphoscoliosis Hypoglycemia Hypertrophic cardiomyopathy Generalized hypotonia Respiratory insufficiency Ventricular hypertrophy Left ventricular hypertrophy Specific learning disability Incoordination Hydrocephalus Cardiorespiratory arrest Delayed speech and language development Cardiomyopathy Talipes equinovarus Motor delay Hyperactivity Hyperreflexia Anteverted nares Hypoplasia of the corpus callosum Hypertonia Headache Depressivity Autism Macrocephaly Osteopenia Irritability Abnormality of the liver Pruritus Sensorineural hearing impairment Visual impairment Peripheral neuropathy Triphalangeal thumb Truncus arteriosus Flexion contracture Pancytopenia Hepatomegaly Congestive heart failure Hydronephrosis Clitoral hypertrophy Short neck Low-set ears Short philtrum Abnormal posturing Wide anterior fontanel Inguinal hernia Premature birth Hydrops fetalis Feeding difficulties Neutropenia Biventricular hypertrophy Retrognathia Pallor Short thumb High palate Nasolacrimal duct obstruction Glioma Abnormality of the thymus Schwannoma Abnormality of the middle ear Paraganglioma Rhabdomyosarcoma Carcinoid tumor Vascular tortuosity Night sweats Pheochromocytoma Conotruncal defect Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Renal phosphate wasting Exotropia Chronic myelogenous leukemia Single ventricle Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Alcoholism Renal artery stenosis Pseudoarthrosis Lisch nodules Soft tissue sarcoma Right aortic arch Impaired T cell function Epigastric pain Dural ectasia Leiomyosarcoma Perisylvian polymicrogyria Duodenal stenosis Gangrene Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Retinal vascular tortuosity Severe vision loss Increased reactive oxygen species production Osteoporosis Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Decreased circulating parathyroid hormone level Facial asymmetry Genu valgum Malabsorption Pulmonic stenosis Paralysis Autistic behavior Weight loss Visual loss Overgrowth Dilatation Intellectual disability, mild Parathyroid hypoplasia Dysarthria Pain Parathyroid agenesis Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Lymphoma Sacral meningocele Aplasia of the thymus Precocious puberty Overweight Inguinal freckling Arteria lusoria Renal cell carcinoma Osteomalacia Multiple cafe-au-lait spots Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Back pain Hypsarrhythmia Sarcoma Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Right aortic arch with mirror image branching Sensorimotor neuropathy Bone pain Cafe-au-lait spot Aganglionic megacolon Esophoria Accommodative esotropia Plexiform neurofibroma Clinodactyly of the 5th finger Spinal neurofibromas Edema of the dorsum of feet Recurrent infections Microphthalmia Schizophrenia Immunodeficiency Fever Arnold-Chiari malformation Cow milk allergy Axial malrotation of the kidney Shoulder muscle hypoplasia Tetraphocomelia Nasal speech Amegakaryocytic thrombocytopenia Posteriorly rotated ears Nevus flammeus of the forehead Aplasia/hypoplasia of the humerus Edema of the dorsum of hands Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Cervical ribs Generalized tonic-clonic seizures with focal onset Cholelithiasis Obesity Narrow mouth Carpal bone hypoplasia Iris coloboma Amblyopia Renal dysplasia Primary amenorrhea Short palpebral fissure Low posterior hairline Amenorrhea Purpura Renal agenesis Chorea Bifid uvula High, narrow palate Hemolytic anemia Polymicrogyria Hypothyroidism Bicuspid aortic valve Bulbous nose Astigmatism Generalized tonic-clonic seizures Microtia Autoimmunity Blepharophimosis Craniosynostosis Abnormality of the pinna Telecanthus Arthritis Umbilical hernia Lateral clavicle hook Fibular aplasia Arterial fibromuscular dysplasia Femoral hernia Sclerocornea Myelomeningocele Tetany Juvenile rheumatoid arthritis Anterior segment developmental abnormality Hypoplasia of the thymus Cerebellar vermis hypoplasia Graves disease Blue sclerae Interrupted aortic arch Focal-onset seizure Perimembranous ventricular septal defect Decreased antibody level in blood Short phalanx of finger Intestinal malrotation Sepsis Hip dislocation Finger syndactyly Brachycephaly Cerebellar hypoplasia Hypocalcemia Malar flattening Intellectual disability, severe Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Meningocele Coxa valga Pancreatic cysts Patellar dislocation Cavum septum pellucidum Fused cervical vertebrae Rheumatoid arthritis Macrovesicular hepatic steatosis Patellar aplasia Delayed CNS myelination Psoriasiform dermatitis Duodenal atresia Unilateral renal agenesis Acne Inflammation of the large intestine Chromosome breakage Carpal synostosis Hypoparathyroidism Nevus flammeus Megalocornea Focal impaired awareness seizure Intracranial hemorrhage Genu varum Autoimmune hemolytic anemia Adducted thumb Hemangioma Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Vitiligo Cardiogenic shock Abnormality of movement Infantile encephalopathy Elevated red cell adenosine deaminase activity Bruising susceptibility Polydactyly Clinodactyly Pectus excavatum Syndactyly Diarrhea Frontal bossing Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Hypoplastic anemia Atrial fibrillation Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Increased mean corpuscular volume 11 pairs of ribs Osteosarcoma Epistaxis Abnormal vertebral morphology Thrombocytosis Oligodactyly Short digit Aplasia of the ulna Abnormality of the carpal bones Small thenar eminence Hematemesis Total anomalous pulmonary venous return Ecchymosis Secundum atrial septal defect Down-sloping shoulders Heart block Short clavicles Thoracic scoliosis Short humerus Bradycardia Atrioventricular canal defect Limited elbow extension Petechiae Right bundle branch block Bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Atrioventricular block Aortic regurgitation Finger clinodactyly Aortic valve stenosis Hypoplastic ilia Macrocytic anemia Aplasia of the pectoralis major muscle Decreased methylcobalamin Telangiectasia Oligohydramnios Abnormal bleeding Triangular face Thin vermilion border Cirrhosis Synophrys Small for gestational age Wide mouth Splenomegaly Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased liver function Methylmalonic acidemia Horizontal ribs Homocystinuria Methylmalonic aciduria Bell-shaped thorax Tachypnea Pulmonary arterial hypertension Wide intermamillary distance Aciduria Gastroesophageal reflux Cerebral atrophy Cryptorchidism Hepatic fibrosis Situs inversus totalis Acute myeloid leukemia Nausea and vomiting Myeloid leukemia Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Myelodysplasia Abnormality of the hand Abnormal dermatoglyphics Bone marrow hypocellularity Depressed nasal ridge Webbed neck Cleft upper lip Narrow chest Cutis laxa Downslanted palpebral fissures Abnormality of glutamine metabolism Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality Micronodular cirrhosis Premature skin wrinkling Dextrocardia Patent foramen ovale Poor suck Deep philtrum Mesoaxial polydactyly Patellar subluxation Axial dystonia Progressive cerebellar ataxia Leukodystrophy Cardiomegaly Congenital diaphragmatic hernia Optic disc pallor Pigmentary retinopathy Cyanosis Febrile seizures Increased serum lactate Migraine Brain atrophy Gliosis Generalized myoclonic seizures Abnormal cerebellum morphology Cardiac arrest Coma Metabolic acidosis Hepatic steatosis Dyskinesia Hepatic failure Lactic acidosis Stage 5 chronic kidney disease Talipes Abnormality of eye movement Limb muscle weakness Stroke Abnormal pyramidal sign Aspiration Horizontal nystagmus Developmental regression Optic neuropathy Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Cerebral edema Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Aspiration pneumonia Mitochondrial myopathy Progressive encephalopathy Renal tubular acidosis Exercise intolerance Basal ganglia calcification Weak cry Poor eye contact Progressive spasticity Pericardial effusion Global brain atrophy Adrenal insufficiency Oral-pharyngeal dysphagia Ragged-red muscle fibers Leukoencephalopathy Shock Pancreatitis Retinopathy Feeding difficulties in infancy Quadricuspid aortic valve Obsessive-compulsive behavior Hyperphenylalaninemia Body odor Folate deficiency Mood changes Generalized hypopigmentation Fair hair Blue irides Self-mutilation Poor coordination Iron deficiency anemia Scleroderma Malnutrition Spontaneous abortion Microphakia Psychosis Eczema Cerebral calcification Delayed myelination Dry skin Abnormality of the cerebral white matter Skin rash Postnatal growth retardation Aggressive behavior Anxiety Tremor Wide nasal bridge Prenatal maternal abnormality Increased level of hippuric acid in urine Apnea Hernia Mental deterioration Abnormality of the eye Muscular hypotonia of the trunk Myalgia Proximal muscle weakness Acidosis Respiratory failure Myoclonus Babinski sign Hyporeflexia Areflexia Encephalopathy Renal insufficiency Phenylpyruvic acidemia Dystonia Cerebellar atrophy Myopathy Dysphagia Optic atrophy Skeletal muscle atrophy Muscular hypotonia Muscle weakness Nystagmus Ataxia Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Type I truncus arteriosus



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