Anemia, and Hirsutism

Diseases related with Anemia and Hirsutism

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


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Low match BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME


Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.

BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME Is also known as xltt|thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Leukemia
  • Bruising susceptibility


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME

Low match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Low match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

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Other less relevant matches:

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE 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

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match L-FERRITIN DEFICIENCY


Related symptoms:

  • Seizures
  • Cataract
  • Anemia
  • Alopecia
  • Generalized-onset seizure


SOURCES: ORPHANET OMIM MENDELIAN

More info about L-FERRITIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Hirsutism

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Thrombocytopenia Prominent forehead Generalized hirsutism Microcephaly Abnormality of the pinna Growth delay Respiratory tract infection Failure to thrive Hypertrophic cardiomyopathy Proteinuria Abnormal heart morphology Hypertrichosis Feeding difficulties Hemolytic anemia Atrial septal defect Cardiomyopathy Hepatomegaly Abnormality of the dentition Wide nasal bridge Optic atrophy Short neck Short stature Abnormality of the skeletal system High palate Vomiting Erythema Long eyelashes Micrognathia Splenomegaly Hypertelorism Diarrhea

Rare Symptoms - Less than 30% cases


Ventricular septal defect Delayed speech and language development Cleft palate Visual impairment Myopia Depressed nasal bridge Intellectual disability, severe Cryptorchidism Low anterior hairline Muscular hypotonia Abnormality of the middle ear Intellectual disability, mild Recurrent infections Obesity Proptosis Pruritus Scoliosis Carious teeth Generalized hypotonia Low posterior hairline Generalized-onset seizure Abnormality of retinal pigmentation Neoplasm Strabismus Gastroparesis Vertigo Vitiligo Congenital diaphragmatic hernia Blue sclerae Increased body weight Purpura Abnormality of the urinary system Bundle branch block Thyroiditis Hashimoto thyroiditis Optic nerve coloboma Otitis media Nystagmus Sensorineural hearing impairment Hypertension Fever Hypertonia Headache Autism Gastroesophageal reflux Microdontia Single transverse palmar crease Renal insufficiency Hypothyroidism Hernia Cataract Depressivity Hypospadias Clinodactyly Visual loss Pneumonia Severe short stature Jaundice Highly arched eyebrow Hypoglycemia Anxiety Feeding difficulties in infancy Postnatal growth retardation Protruding ear Malabsorption Anal atresia Astigmatism Polymicrogyria Kyphosis Delayed skeletal maturation Respiratory distress Postural instability Thin skin Inflammatory abnormality of the skin Cutaneous photosensitivity Hepatitis Hypopigmented skin patches Sudden cardiac death Cerebral calcification Hepatic steatosis Petechiae Wide nose Abnormal lung morphology Synophrys Hip dislocation Skin rash Hyperpigmentation of the skin Telecanthus Alopecia Hyperreflexia Epicanthus Patent ductus arteriosus Recurrent respiratory infections Focal segmental glomerulosclerosis Hepatosplenomegaly Abnormality of the liver Photophobia Ophthalmoplegia Paresthesia Dysmetria Delayed puberty Acidosis Nausea and vomiting Congenital cataract Apnea Arthrogryposis multiplex congenita EEG abnormality Myalgia Nyctalopia Lethargy Generalized tonic-clonic seizures Dilated cardiomyopathy Neurological speech impairment Confusion Mental deterioration Developmental regression Attention deficit hyperactivity disorder Stroke Lactic acidosis Ichthyosis Abnormality of the cardiovascular system Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Hemiparesis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Leukemia Pigmentary retinopathy Peripheral axonal neuropathy Abnormal cerebellum morphology Weight loss Nausea Nephropathy Polyneuropathy Coma Muscle cramps Generalized myoclonic seizures Amenorrhea Sensory impairment Migraine Increased serum lactate Memory impairment Hip dysplasia Specific learning disability Dyspnea Hypoplastic acetabulae Gait ataxia Supernumerary ribs Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Phocomelia Muscle weakness Abnormality of the gastrointestinal tract Ectrodactyly Poor appetite Hiatus hernia Aspiration pneumonia Esophagitis Hypoplastic labia majora Thick upper lip vermilion Hand oligodactyly Recurrent hypoglycemia Volvulus Panhypopituitarism Peters anomaly Short sternum Perimembranous ventricular septal defect Ataxia Pain Cerebral cortical atrophy Rod-cone dystrophy Arrhythmia Areflexia Hyporeflexia Elevated serum creatine phosphokinase Constipation Cerebellar hypoplasia Dementia Cerebral atrophy Myoclonus Osteoporosis Hallucinations Hypogonadism Diabetes mellitus Abdominal pain Encephalopathy Dystonia Bruising susceptibility Gait disturbance Cognitive impairment Motor delay Peripheral neuropathy Dysarthria Skeletal muscle atrophy Tremor Fatigue Congestive heart failure Dysphagia Ventriculomegaly Respiratory insufficiency Blindness Myopathy Cerebellar atrophy Gingival overgrowth Reduced tendon reflexes Cerebral visual impairment Seborrheic dermatitis Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Stroke-like episode Persistence of primary teeth Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Writer's cramp Leber optic atrophy Posterior subcapsular cataract Progressive night blindness Increased serum ferritin Iron deficiency anemia Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Cochlear malformation Spontaneous hematomas Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Transient ischemic attack Progressive external ophthalmoplegia Clonus Hyperkinesis Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Goiter Intestinal obstruction Schizophrenia Mutism Ischemic stroke Ragged-red muscle fibers Hypoplastic nipples External ophthalmoplegia Pancreatitis Macular degeneration Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism EMG abnormality Truncal ataxia Cardiac arrest Personality changes Aplasia/Hypoplasia of the cerebellum Mitochondrial myopathy Basal ganglia calcification Hypoparathyroidism Heart block Xerostomia Neonatal hypoglycemia Abnormality of visual evoked potentials Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Rhabdomyolysis Hyperthyroidism Glomerulopathy Bifid scrotum Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Hemiplegia/hemiparesis Mask-like facies Oligodactyly Pyloric stenosis Dislocated radial head Onycholysis Autoimmunity Abnormal cardiac septum morphology Coloboma Paralysis Skin vesicle Fragile skin Scleroderma Abnormality of the kidney Intellectual disability, moderate Joint laxity Hepatocellular carcinoma Hydronephrosis Atypical scarring of skin Pes planus Joint hypermobility Macrotia Anemia of inadequate production Micropenis Posteriorly rotated ears Alcoholism Congenital hypoplastic anemia Facial hypertrichosis Viral hepatitis Porphyrinuria Hyperpigmentation in sun-exposed areas Spasticity Dilatation Immunodeficiency Cerebral palsy Hypodontia Pectus excavatum Horseshoe kidney Celiac disease Right bundle branch block Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Carcinoma Abnormal dermatoglyphics Hyperbilirubinemia Congenital hip dislocation Intestinal malrotation Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Renal dysplasia Heterotopia Recurrent otitis media Small nail Cirrhosis Coarctation of aorta Abnormal blistering of the skin Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Prominent nose Flexion contracture Brachydactyly Severe hearing impairment Bone marrow hypocellularity Dehydration Convex nasal ridge Asthma Palmoplantar keratoderma Dry skin Arachnodactyly Genu valgum Thickened skin Papule Elevated hepatic transaminase High forehead Joint contracture of the hand Hyperkeratosis Abnormality of metabolism/homeostasis Delayed myelination Coarse hair Malar flattening Short nose Glomerulosclerosis Barrel-shaped chest Tubular atrophy Downslanted palpebral fissures Dysostosis multiplex Beaking of vertebral bodies Large forehead Flared iliac wings Acetabular dysplasia Macrovesicular hepatic steatosis J-shaped sella turcica Depressed nasal ridge Lymphedema Skeletal dysplasia Chronic lung disease Coarse facial features Abnormal pyramidal sign Pectus carinatum Abnormality of the foot Thick vermilion border Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Macroglossia White forelock Concave nasal ridge Hypoplasia of the zygomatic bone Skin ulcer Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Recurrent pneumonia Bilateral single transverse palmar creases Brain atrophy Long palpebral fissure Transposition of the great arteries Weak cry Small for gestational age Sleep disturbance Tapered finger Small hand High, narrow palate Downturned corners of mouth Pulmonary hypoplasia Thick eyebrow Thin vermilion border Cleft upper lip Abnormal bleeding Micromelia Toe syndactyly Pulmonic stenosis Prominent nasal bridge Microcornea Craniosynostosis Autistic behavior Pallor Camptodactyly Aggressive behavior Conductive hearing impairment Thin upper lip vermilion Retrognathia Epistaxis Mandibular prognathia Narrow mouth Glaucoma Hyperactivity Delayed eruption of teeth Renal cyst Hyperhidrosis Deep philtrum Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Obstructive lung disease Short metatarsal Incoordination Triangular face Hypoplasia of the radius Relative macrocephaly Widely spaced teeth Torticollis Spontaneous abortion Elbow flexion contracture Aspiration Recurrent urinary tract infections Choanal atresia Renal hypoplasia High myopia Webbed neck Vesicoureteral reflux Sepsis Brachycephaly Clinodactyly of the 5th finger Cerebellar vermis atrophy Mitral stenosis Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Abnormal platelet function Retinal coloboma Vertebral clefting Short 5th finger Depressed nasal tip Short columella Patellar dislocation Transient myeloproliferative syndrome Scaphocephaly Overweight Absence of alpha granules Anal stenosis Autoimmune thrombocytopenia IgA deficiency Edema Congenital hypothyroidism Autoimmune hemolytic anemia Epibulbar dermoid Common atrium Prolonged bleeding time Low-set ears Inguinal hernia Microcytic anemia Syndactyly Long philtrum Behavioral abnormality Reticulocytosis Hydrocephalus Anteverted nares Talipes equinovarus Macrocephaly Intrauterine growth retardation Abnormal hemoglobin Decreased mean corpuscular volume Myeloproliferative disorder Anorectal anomaly Increased mean platelet volume Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Restless legs



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