Myopathy, and Intellectual disability, moderate

Diseases related with Myopathy and Intellectual disability, moderate

In the following list you will find some of the most common rare diseases related to Myopathy and Intellectual disability, moderate that can help you solving undiagnosed cases.


Top matches:

High match MYOPATHY AND DIABETES MELLITUS


MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

High match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Medium match COWDEN SYNDROME


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

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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Other less relevant matches:

Medium match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Medium match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match B4GALT1-CDG


B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

Medium match L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY


L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Medium match CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY


Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY Is also known as congenital muscular dystrophy with itga7 deficiency|myopathy, congenital, due to integrin alpha-7 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

Medium match KYPHOSIS-LATERAL TONGUE ATROPHY-MYOFIBRILLAR MYOPATHY SYNDROME


Myofibrillar myopathy-7 is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness primary affecting the lower limbs and associated with joint contractures (summary by Straussberg et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about KYPHOSIS-LATERAL TONGUE ATROPHY-MYOFIBRILLAR MYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Intellectual disability, moderate

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopathy and Intellectual disability, moderate. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Motor delay Cognitive impairment Macrocephaly Muscular hypotonia Kyphosis Infantile muscular hypotonia Failure to thrive Strabismus Short stature High palate Abnormal facial shape Cataract Ptosis Delayed speech and language development Myopia Kyphoscoliosis Skeletal muscle atrophy Dysarthria Ataxia Cerebral cortical atrophy Depressed nasal bridge Decreased antibody level in blood Intellectual disability, mild Behavioral abnormality Recurrent infections Atrial septal defect Hydrocephalus Proximal muscle weakness Downslanted palpebral fissures Pectus excavatum Overgrowth Hyporeflexia Hypertelorism Hemangioma Low-set ears Pain Neoplasm Micrognathia Progressive muscle weakness Nystagmus Epicanthus Carcinoma Flexion contracture Macroglossia Abnormality of dental enamel Hearing impairment Autism Failure to thrive in infancy

Rare Symptoms - Less than 30% cases


Sudden cardiac death Carious teeth Craniosynostosis Transitional cell carcinoma of the bladder Abdominal pain Joint stiffness Enlarged cerebellum Anteverted nares Macrotia Proptosis Hyperkeratosis Abnormality of cardiovascular system morphology Glaucoma Clinodactyly of the 5th finger Constipation Abnormality of the vasculature Goiter Arteriovenous malformation Megalencephaly Lipoma Ovarian neoplasm Hamartoma Meningioma Multiple cafe-au-lait spots Multiple lipomas Melanocytic nevus Incoordination Palmoplantar hyperkeratosis Epidermal acanthosis Long penis Enlarged polycystic ovaries Papilloma Generalized hyperkeratosis Neoplasm of the central nervous system Colonic diverticula Papilledema Nevus Short nose Open mouth Abnormality of the fingernails Wide mouth Pulmonic stenosis Joint hyperflexibility Thick vermilion border Sleep disturbance Postural instability Full cheeks Mitral valve prolapse Thick lower lip vermilion Hoarse voice Pointed chin Cutis laxa Feeding difficulties in infancy Abnormal dermatoglyphics Arnold-Chiari malformation Redundant skin Hypoplastic toenails Arnold-Chiari type I malformation Soft skin Large earlobe Achilles tendon contracture Hyperlordosis Autistic behavior Stroke Gowers sign Irritability Low-set, posteriorly rotated ears Abnormal form of the vertebral bodies Abnormality of the dentition Lymphedema Decreased muscle mass Hallux valgus Generalized hyperpigmentation Abnormality of the neck Myofibrillar myopathy Growth delay Cryptorchidism Feeding difficulties Hypertension Ventricular septal defect Talipes equinovarus Cafe-au-lait spot Joint laxity Long philtrum Renal insufficiency Absent speech Hernia Abnormal heart morphology Inguinal hernia Delayed skeletal maturation Pes cavus Osteoporosis Gastroesophageal reflux Coarse facial features Hypertrophic cardiomyopathy Lymphopenia Osteopenia Facial palsy Pectus carinatum Hypothyroidism Hip dysplasia Dysphonia Headache Immunodeficiency Smooth philtrum Frontal bossing Tremor Congenital muscular dystrophy Muscular dystrophy Hip dislocation Neurological speech impairment Diabetes mellitus Microcephaly Nausea and vomiting Spasticity Difficulty walking Pes planus Brachydactyly Optic atrophy Abnormality of the skeletal system Abnormality of finger Hypogonadism Intellectual disability, severe Severe short stature Cerebellar hypoplasia Hypertonia Cerebral atrophy Abnormality of the kidney Abnormality of the metacarpal bones Type I diabetes mellitus Joint hypermobility Subcutaneous nodule Type II diabetes mellitus Peripheral neuropathy Polymicrogyria Metatarsus valgus Everted lower lip vermilion Arthralgia Esotropia Protruding ear Hypsarrhythmia Ventricular hypertrophy Developmental regression Cleft lip Proteinuria Renal hypoplasia Small nail Anxiety Umbilical hernia Myocardial infarction Coarctation of aorta Hemiparesis Recurrent otitis media Vesicoureteral reflux Mitral regurgitation Involuntary movements High forehead Recurrent urinary tract infections Micropenis Recurrent respiratory infections Nephrolithiasis Amblyopia Cardiomegaly Abnormality of extrapyramidal motor function Otitis media Broad nasal tip Hypodontia Renal agenesis Oral cleft Dysmetria Genu valgum Malabsorption Patent ductus arteriosus Corneal opacity Small for gestational age Broad forehead Fatigue Microdontia Hypoplasia of penis Dehydration Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Tetralogy of Fallot Abnormality of the cardiovascular system Scarring Blepharophimosis Narrow forehead Hypotelorism Dental malocclusion Chest pain Paralysis Gait disturbance Depressivity Melena Fetal distress Bronchomalacia Large face Thin nail Deep plantar creases Hematemesis Triangular mouth Abnormality of earlobe Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Ulnar deviation of the wrist Body odor Limited elbow movement Schwannoma Shyness Asymmetric septal hypertrophy Central apnea Lack of skin elasticity Abnormality of the testis Redundant neck skin Labial hypoplasia Deep palmar crease Abnormal mitral valve morphology Broad femoral neck Broad philtrum Fasting hypoglycemia Hypoplasia of teeth Concave nail Pneumothorax Hyperextensibility of the finger joints Rhabdomyosarcoma Postprandial hyperglycemia Hypopnea Obesity Wide nasal bridge Systolic heart murmur Increased corneal curvature Sensorineural hearing impairment Cleft palate Visual impairment Hyperreflexia Intrauterine growth retardation Congenital neuroblastoma Aortic valve stenosis Respiratory distress Congestive heart failure Myalgia Malar flattening Midface retrusion Thickened Achilles tendon Lymphangiectasis Concentric hypertrophic cardiomyopathy Neonatal sepsis Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Choroid plexus papilloma Alveolar rhabdomyosarcoma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Macrocephaly at birth Myofiber disarray Vitreomacular adhesion Tendon rupture Gingival overgrowth Exotropia Narrow face Abnormality of the gastric mucosa Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Renovascular hypertension Abnormality of the bladder Abnormal social behavior Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Renal artery stenosis Synostosis of joints Abnormal carotid artery morphology Abnormal endocardium morphology Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Retinal vascular tortuosity Thyroid hypoplasia Aplasia/Hypoplasia of the iris Nocturia Renal duplication Vascular tortuosity Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Paroxysmal bursts of laughter Abnormality of the diencephalon Abnormality of nervous system morphology Torticollis Organic aciduria Abnormality of creatine metabolism Dyspnea Neonatal hypotonia Waddling gait Congenital hip dislocation Respiratory insufficiency due to muscle weakness Long fingers Increased variability in muscle fiber diameter Fatty replacement of skeletal muscle Abnormality of the foot Inability to walk Lumbar hyperlordosis Elbow flexion contracture Spinal rigidity Progressive proximal muscle weakness Language impairment Medial flaring of the eyebrow Stellate iris Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Functional abnormality of male internal genitalia Aciduria Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Dandy-Walker malformation Abnormality of the coagulation cascade Abnormality of coagulation Stroke-like episode Phonophobia Dysgraphia Increased bone mineral density Unilateral renal agenesis Precocious puberty Portal hypertension Abnormality of the voice Nephritis Chronic otitis media Obsessive-compulsive behavior Abnormality of dental morphology Hypercalcemia Tracheoesophageal fistula Glucose intolerance Polyuria Loss of consciousness Open bite Premature graying of hair Vertebral segmentation defect Radioulnar synostosis Cholelithiasis High hypermetropia Verrucae Increased body weight Hypogonadotrophic hypogonadism Hemivertebrae Nephrocalcinosis Spina bifida occulta Progressive hearing impairment Bicuspid aortic valve Hypercalciuria Sacral dimple Ischemic stroke Schizophrenia Reduced bone mineral density Adducted thumb Abnormality of pelvic girdle bone morphology Polycystic ovaries Celiac disease Prematurely aged appearance Arterial stenosis Peripheral pulmonary artery stenosis Dyslexia Cerebral ischemia Abnormality of refraction Gait imbalance Periorbital fullness Decreased plasma carnitine Subvalvular aortic stenosis Enuresis Abnormal renal morphology Lacrimation abnormality Bladder diverticulum Cystic renal dysplasia Peptic ulcer Periorbital edema Rectal prolapse Villous atrophy Abnormality of the cerebral vasculature Facial cleft Pulmonary artery stenosis Restlessness Insomnia Megalocornea Abnormality of lipid metabolism Posterior embryotoxon Nevus flammeus Poor coordination Patellar dislocation Tubulointerstitial nephritis Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Chronic constipation Right ventricular hypertrophy Widely spaced teeth Ulnar deviation of finger Large forehead Mild global developmental delay Myopathic facies Gliosis External genital hypoplasia Abdominal distention Renal cyst Long face Abnormality of skin pigmentation Confusion Facial asymmetry Rimmed vacuoles Dolichocephaly Finger syndactyly Centrally nucleated skeletal muscle fibers Skeletal dysplasia Avascular necrosis of the capital femoral epiphysis High myopia Cerebellar cortical atrophy Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Lobular carcinoma in situ Abnormal lactate dehydrogenase activity Fever Splenomegaly Autophagic vacuoles Syndactyly Visual loss Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle flaccidity Muscle fiber necrosis Round face Cubitus valgus Dysplastic gangliocytoma of the cerebellum Abnormal lung lobation Pericardial effusion Neurofibromas Muscle stiffness Pulmonary embolism Spinal canal stenosis Irregular hyperpigmentation Neoplasm of the lung Coxa valga Exostoses Capillary hemangioma Spinal cord compression Abnormality of the wrist Macroorchidism Deep venous thrombosis Disproportionate tall stature Sandal gap Short metatarsal Generalized hirsutism Heterotopia Thickened skin Abnormality of retinal pigmentation Sinusitis Abnormal vertebral morphology Abnormality of the nail Venous thrombosis Diabetes insipidus Reduced number of teeth Growth abnormality Cachexia Lipodystrophy Chorioretinal coloboma Hyperostosis Conjunctival hamartoma Trichilemmoma Lower limb asymmetry Hyperthyroidism Abnormality of the thyroid gland Hypoplasia of the maxilla Cystic hygroma Cellulitis Palmoplantar keratoderma Acute myeloid leukemia Thyroiditis Cutis marmorata Hodgkin lymphoma Renal cell carcinoma Hashimoto thyroiditis Scaphocephaly Papule Leukemia Macule Abnormal cerebellum morphology Skin tags Hypopigmented skin patches Gynecomastia Telangiectasia Neoplasm of the skin Cranial nerve paralysis Drooling Increased intracranial pressure Melanoma Hand polydactyly Breast carcinoma Broad thumb Intention tremor Lymphoma Dysdiadochokinesis Intracranial hemorrhage Prolactin excess Hydrocele testis Aplasia/Hypoplasia involving the skeletal musculature Progressive macrocephaly Intestinal polyp Thyroid adenoma Varicocele Follicular thyroid carcinoma Endometrial carcinoma Colorectal polyposis Pseudopapilledema Angioid streaks of the fundus Mucosal telangiectasiae Acrokeratosis Abnormal aldolase level Neoplasm of the thyroid gland Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Ovarian carcinoma Abnormality of the penis Narrow mouth Cellular immunodeficiency Furrowed tongue Abnormality of the uterus Astrocytoma Ovarian cyst Intestinal polyposis Bone cyst Dilatation Subcutaneous lipoma Cavernous hemangioma Hamartomatous polyposis Fibroma Diarrhea Decreased proportion of CD4-positive T cells Adenoma sebaceum Varicose veins Hypergonadotropic hypogonadism Thick upper lip vermilion Decreased activity of mitochondrial complex IV Long eyelashes Hyperpigmentation of the skin Wide anterior fontanel Hydrops fetalis Abnormality of the hair Weakness of orbicularis oculi muscle Narrow palate Hypoplasia of dental enamel Short chin Peripheral arterial stenosis Acanthosis nigricans Proximal amyotrophy Mitochondrial myopathy EMG: myopathic abnormalities Decreased body weight Atrial fibrillation Laryngomalacia Ascites Cerebellar atrophy Astigmatism Tachycardia Wide nose Hematuria High, narrow palate Tetraplegia Apraxia Sepsis Premature birth Webbed neck Growth hormone deficiency Abnormality of the skin Eczema Relative macrocephaly Poor suck Hypermetropia Severe postnatal growth retardation Tracheomalacia Central hypotonia Syringomyelia Neonatal hypoglycemia Sensory neuropathy Obstructive sleep apnea Microscopic hematuria Rhabdomyolysis Thickened nuchal skin fold Fragile nails Barrel-shaped chest Progeroid facial appearance Woolly hair Limb muscle weakness Chronic diarrhea Neuroblastoma Hyperextensible skin Hyperglycemia Pyloric stenosis Ragged-red muscle fibers Exercise intolerance Aortic aneurysm Pleural effusion Heart murmur Bilateral cryptorchidism Curly hair Tricuspid regurgitation Rocker bottom foot Large for gestational age Neurodevelopmental delay Reduced subcutaneous adipose tissue Keratoconus Delayed puberty Arthrogryposis multiplex congenita Hemihypertrophy Facial hyperostosis Epidermal nevus Calvarial hyperostosis Portal vein thrombosis Macrodactyly Sirenomelia Narrow internal auditory canal Nevus sebaceous Testicular neoplasm Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Retinal nonattachment Abnormal subcutaneous fat tissue distribution Neoplasm of the thymus Lymphangioma Upper limb asymmetry Connective tissue nevi Thick nasal alae Anisocytosis Arterial thrombosis Buphthalmos Sensorimotor neuropathy Thin bony cortex Visceral angiomatosis Asymmetric growth Keloids Asymmetry of the thorax Vascular skin abnormality Thrombophlebitis Venous malformation Epibulbar dermoid Nephrogenic diabetes insipidus Central heterochromia Depigmentation/hyperpigmentation of skin Sparse hair Rigidity Arrhythmia Congenital cataract Posteriorly rotated ears Hyperhidrosis Respiratory failure Polyhydramnios Deeply set eye Short palm Hypoglycemia Abnormality of the nervous system Gait ataxia Apnea Areflexia Postnatal growth retardation Synophrys Dyskinesia Hypertrophy of skin of soles Dysphagia Mandibular hyperostosis Short thumb Limb ataxia Hypertrichosis Specific learning disability Hepatomegaly Short metacarpal Microcornea Ventriculomegaly Respiratory insufficiency Short neck Cardiomyopathy Edema Progressive cerebellar ataxia Nemaline bodies



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