Macrocephaly, and Coronary artery atherosclerosis

Diseases related with Macrocephaly and Coronary artery atherosclerosis

In the following list you will find some of the most common rare diseases related to Macrocephaly and Coronary artery atherosclerosis that can help you solving undiagnosed cases.


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Medium match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Medium match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Medium match HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY


Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

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Other less relevant matches:

Medium match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Low match OGDEN SYNDROME


Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Low match TORIELLO-LACASSIE-DROSTE SYNDROME


Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Low match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Low match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Low match CUTIS MARMORATA TELANGIECTATICA CONGENITA


Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Low match ARTERIAL TORTUOSITY SYNDROME; ATS


ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Top 5 symptoms//phenotypes associated to Macrocephaly and Coronary artery atherosclerosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Macrocephaly and Coronary artery atherosclerosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Stroke

Uncommon Symptoms - Between 30% and 50% cases


Seizures Generalized hypotonia Depressed nasal bridge Hypertelorism Abnormal facial shape Growth delay Inguinal hernia Wide nasal bridge Frontal bossing Macrotia Proptosis Hernia Arrhythmia Prominent forehead Myocardial infarction Neoplasm Micrognathia Hypertension Blepharophimosis Epicanthus Thin skin Coxa valga Heart murmur Deeply set eye Cognitive impairment Feeding difficulties Abnormality of cardiovascular system morphology Ventriculomegaly Hydrocephalus Downslanted palpebral fissures Dilatation Edema Vomiting Behavioral abnormality Encephalopathy Headache Cutis laxa Short stature Redundant skin Pulmonary artery stenosis Abnormality of the cardiovascular system Pectus carinatum Telangiectasia of the skin Osteopenia Congestive heart failure Flexion contracture Cardiomyopathy Short nose Abnormality of the dentition Hearing impairment Dyspnea

Rare Symptoms - Less than 30% cases


Respiratory distress Parietal bossing Dilated cardiomyopathy Large earlobe Ischemic stroke Progressive visual loss Hip dysplasia Telangiectasia Abnormality of the skin Fatigue Premature coronary artery atherosclerosis Progressive neurologic deterioration Midface retrusion Respiratory failure Kyphosis Delayed eruption of teeth Vertigo Arachnodactyly Shock Craniosynostosis Long face Hyperextensible skin Angina pectoris Full cheeks High, narrow palate Capillary malformation Abnormality of eye movement Pallor Apnea Aplasia/Hypoplasia of the skin Umbilical hernia Coarse facial features Alopecia Dilation of lateral ventricles Severe global developmental delay Short palpebral fissure Nevus Dementia Osteoporosis Malar flattening Opacification of the corneal stroma Long philtrum Joint laxity Conductive hearing impairment Cutis marmorata Anteverted nares Hypertrophic cardiomyopathy Joint stiffness Hepatomegaly Strabismus Inability to walk Hip dislocation Thick vermilion border Keratoconus Long eyelashes Coxa vara Hemiplegia Coma Waddling gait High palate Low-set ears Asymmetric growth Hypogonadotrophic hypogonadism Abnormality of nervous system morphology Arterial stenosis Cerebral ischemia Aortic valve stenosis Sparse and thin eyebrow Arteriovenous malformation Nevus flammeus Left ventricular hypertrophy Intracranial hemorrhage Decreased body weight Sensorineural hearing impairment Delayed puberty High forehead Finger syndactyly Cardiomegaly Toe syndactyly Facial asymmetry Convex nasal ridge Joint hyperflexibility Polymicrogyria Limitation of joint mobility Arnold-Chiari malformation Ventricular septal defect Wide mouth Lethargy Multiple joint contractures Aortic regurgitation Transient ischemic attack Abnormality of the skeletal system Microcephaly Ataxia Short clavicles Postnatal growth retardation Spasticity Cerebral palsy Gait disturbance Aortic root aneurysm Cerebral atrophy Skeletal muscle atrophy Hyperactivity Hiatus hernia Carious teeth Hyperinsulinemia Abnormality of the nervous system Abnormality of the bladder Lower limb asymmetry Eyelid coloboma Specific learning disability Cardiac arrest Anisometropia Pyloric stenosis Arachnoid cyst Aortic aneurysm Myopia Abnormality of the ureter Rocker bottom foot Aplasia cutis congenita Myocarditis Esophagitis Abnormal conjunctiva morphology Gastrointestinal atresia Ossifying fibroma Avascular necrosis of the capital femoral epiphysis Aortic dissection Clinodactyly of the 5th finger Abnormality of the penis Epibulbar dermoid Cardiorespiratory arrest Abnormal myocardium morphology Exstrophy Gastroesophageal reflux Fibroma Epidermal nevus Prematurely aged appearance Bladder exstrophy Epispadias Laryngeal hypoplasia Female hypogonadism Generalized hyperpigmentation Highly arched eyebrow Delayed cranial suture closure Broad hallux Deep philtrum Coarse hair Delayed gross motor development Scrotal hypoplasia Ventricular tachycardia Torticollis Microretrognathia Low anterior hairline Stereotypy Fine hair Narrow forehead Underdeveloped nasal alae Small hand Poor eye contact Hypertonia Foot polydactyly Abnormality of hair density Visceral angiomatosis Cryptorchidism Telangiectases of the cheeks Atrial septal defect Recurrent infections Tachycardia Delayed skeletal maturation Thin upper lip vermilion Neonatal hypotonia Muscular hypotonia of the trunk Autistic behavior Abnormality of the foot Aplasia/Hypoplasia of the eyebrow Short columella Hamartoma Brachydactyly Absent septum pellucidum Multiple lipomas Abnormality of the ear Lymphedema Hyperpigmentation of the skin Aganglionic megacolon Coarctation of aorta Short palm Astigmatism Coloboma Telecanthus Polyhydramnios Agenesis of corpus callosum Hypospadias Facial wrinkling Ventricular extrasystoles Acetabular dysplasia Excessive daytime somnolence Shuffling gait Thick upper lip vermilion Supraventricular tachycardia Torsade de pointes Unilateral cryptorchidism Everted upper lip vermilion Median cleft lip and palate Abnormality of the nares Cardiogenic shock Abnormal head movements Abnormality of the forehead Minimal subcutaneous fat Enlarged naris Femoral hernia Metabolic acidosis Long palm Facial hemangioma Atrial flutter Cavum septum pellucidum Skin erosion Right aortic arch Perisylvian polymicrogyria Subcutaneous hemorrhage Short lower limbs Hemimegalencephaly Hemihypertrophy Leukocoria Progressive macrocephaly Displacement of the external urethral meatus Vascular ring Cutis marmorata telangiectatica congenita Blue nevus Ptosis Abnormality of the upper limb Abnormality of the lower limb Pectus excavatum Abnormality of digit Purpura Cutaneous syndactyly Hemangioma Reduced bone mineral density Nephroblastoma Large for gestational age Cortical dysplasia Multiple cafe-au-lait spots Varicose veins Syringomyelia Arnold-Chiari type I malformation Severe postnatal growth retardation Severe failure to thrive Capillary hemangioma Megalencephaly Meningioma Blindness Scarring Postaxial hand polydactyly Galactorrhea Male hypogonadism Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Bladder diverticulum Abnormal thrombosis Rectal prolapse Oculomotor nerve palsy Secondary growth hormone deficiency Soft skin Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Decreased fertility in females Arterial tortuosity Decreased female libido Decreased circulating ACTH level Sudden loss of visual acuity Bitemporal hemianopia Growth hormone excess Pulmonic stenosis Increased body weight Bruising susceptibility Hypotension Amenorrhea Congenital diaphragmatic hernia Ventricular hypertrophy Diplopia Gynecomastia Recurrent pneumonia Tracheomalacia Short chin Easy fatigability Hyperglycemia Epiphora Impotence Blurred vision Atrophic scars Multicystic kidney dysplasia Overgrowth Keratoglobus Dehydration Dyskinesia Abnormal cerebellum morphology Gliosis Delayed myelination Migraine Aciduria Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Abnormality of the cerebral white matter Choreoathetosis Large fontanelles Exercise intolerance Joint dislocation Leukoencephalopathy Hyperkinesis Encephalitis Abnormality of movement Neurological speech impairment Opisthotonus Dystonia Abnormal carotid artery morphology Abnormality of the zygomatic bone Motor delay Fever Tremor Dysphagia Myopathy Hyperhidrosis Paralysis Acidosis Hypoglycemia Rigidity Feeding difficulties in infancy Developmental regression Irritability Respiratory tract infection Spastic diplegia Bulbar palsy Vesicoureteral reflux Smooth philtrum Internal ophthalmoplegia Curved fingers Hypothyroidism Generalized arterial tortuosity Broad forehead Leukemia Soft, doughy skin Fourth cranial nerve palsy Abnormal heart morphology Cranial nerve VI palsy Decreased fertility in males Oral cleft Joint hypermobility Postaxial polydactyly Retinal detachment Ascites Polydactyly Patent ductus arteriosus Malignant hyperthermia Retinal hemorrhage Generalized dystonia Ketonuria Abnormality of the retinal vasculature Decreased plasma carnitine Fasting hypoglycemia Acute encephalopathy Infantile encephalopathy Glutaric aciduria Microphthalmia Glutaric acidemia Macrocephaly at birth Symmetrical progressive peripheral demyelination Ketonemia Subdural hemorrhage Intrauterine growth retardation Syndactyly Malnutrition Broad ischia Hypermelanotic macule Splenomegaly Arteriosclerosis of small cerebral arteries Tapering pointed ends of distal finger phalanges Delayed speech and language development Short neck Respiratory insufficiency Diarrhea Depressivity Abnormal trabecular bone morphology Visual loss Constipation Pneumonia Recurrent respiratory infections Pes cavus Abdominal pain Glaucoma Regional abnormality of skin Insulin-resistant diabetes mellitus at puberty Skeletal dysplasia Bird-like facies Decreased testosterone in males Sinus tachycardia Corneal arcus Intermittent claudication Widely patent fontanelles and sutures Mitral valve calcification Prominent scalp veins Absence of pubertal development Hypoplastic facial bones Reticulated skin pigmentation Old-aged sensorineural hearing impairment Craniofacial disproportion Bilateral coxa valga Narrow nasal tip Carotid artery stenosis Kyphoscoliosis Hepatosplenomegaly Absence of subcutaneous fat Interphalangeal joint contracture of finger Broad nasal tip Asthma Microdontia Abnormality of the ribs Lumbar hyperlordosis Intellectual disability, profound Hypertrichosis Sleep disturbance Recurrent otitis media Split hand Mitral regurgitation Abnormal form of the vertebral bodies Encephalocele Chronic diarrhea Thickened skin Macroglossia Neurodegeneration Elevated hepatic transaminase Dolichocephaly Mental deterioration Retinopathy Camptodactyly of finger Abnormal pyramidal sign Nyctalopia Corneal opacity Synophrys Everted lower lip vermilion Genu valgum Dry skin Retinal degeneration Abnormality of skin pigmentation Thick eyebrow Hirsutism Wide nose Thin nail Hip pain Gingival overgrowth Increased bone mineral density Osteoarthritis Broad-based gait Dental crowding Hypohidrosis Insulin resistance Aspiration Hypergonadotropic hypogonadism Cyanosis Aminoaciduria Osteolysis Atherosclerosis Hyperlipidemia Acanthosis nigricans Hypercholesterolemia Relative macrocephaly Hypertriglyceridemia Nail dysplasia Nasal speech Microtia Pain Cataract Hypogonadism Narrow mouth Carcinoma Sparse hair Hypermetropia Growth hormone deficiency Hypotrichosis Narrow chest Infertility Thin vermilion border Hepatic steatosis Hypodontia Chest pain Dermal atrophy Lipodystrophy Aplastic clavicle Aplasia/Hypoplasia of the earlobes Ovoid vertebral bodies Osteolytic defects of the phalanges of the hand Prominent superficial veins Lack of skin elasticity Generalized osteoporosis Small face Precocious atherosclerosis Down-sloping shoulders Enlarged joints Thin bony cortex Decreased serum estradiol Prolonged prothrombin time Carcinoid tumor Arteriosclerosis Narrow nasal ridge Hyperphosphatemia Fragile nails Premature ovarian insufficiency Lipoatrophy Metaphyseal widening Abnormality of the thorax High pitched voice Premature graying of hair Prolonged QT interval Exertional dyspnea Scleroderma Absent eyelashes Thin ribs Keratoconjunctivitis sicca Hypoplastic nipples Renal cell carcinoma Alopecia of scalp Thrombocytosis Abnormal EKG Abnormality of epiphysis morphology Exotropia Aplasia/Hypoplasia of the cerebellum Calcification of falx cerebri Abnormal CNS myelination Lumbar kyphosis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Abnormality of the pubic bone Hypoplasia of the femoral head Abnormality of the tonsils Short mandibular rami C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Abnormality of lysosomal metabolism Flaring of rib cage Cervical kyphosis Urinary glycosaminoglycan excretion Delayed tarsal ossification Atlantoaxial dislocation Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum J-shaped sella turcica Abnormality of the gingiva Hip subluxation Hernia of the abdominal wall Heparan sulfate excretion in urine Abnormal hand morphology Enlargement of the wrists Abnormality of the middle ear ossicles Cervical myelopathy Calvarial hyperostosis Thoracolumbar kyphoscoliosis Abnormality of joint mobility Thick skull base Meckel diverticulum Paraparesis Attention deficit hyperactivity disorder Limb muscle weakness Paresthesia Epileptic encephalopathy Hypsarrhythmia Hallucinations Incoordination Intellectual disability, mild Poor suck Thromboembolism Delusions Homocystinuria Hyperhomocystinemia Optic atrophy Hand polydactyly Proximal muscle weakness Intellectual disability, severe Deformed humerus Abnormality of glycosaminoglycan metabolism Enlarged vertebral pedicles Proximal tapering of metacarpals Bullet-shaped phalanges of the hand Broad long bone diaphyses Abnormality of the wing of the ilium Increased size of nasopharyngeal adenoids Abnormality of the tympanic membrane Hypoplasia of the corpus callosum Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormality of premolar morphology Abnormal mandibular ramus morphology Delayed ossification of the hand bones Muscle weakness Peripheral neuropathy Narrow pelvis bone Anterior open bite Abnormal vertebral morphology Protruding tongue Abnormal heart valve morphology Thickened calvaria Arthropathy Spinal canal stenosis Rhinitis Thoracic scoliosis Hypoplasia of the odontoid process Flared metaphysis Palpebral edema Protuberant abdomen Peripheral visual field loss Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Obstructive sleep apnea Restrictive ventilatory defect Metatarsus adductus Abnormality of the clavicle Corneal dystrophy Elbow flexion contracture Generalized hirsutism Spastic paraparesis Abnormality of dental enamel Widely spaced teeth Progressive hearing impairment Sleep apnea Toe walking Hyperammonemia Increased intracranial pressure Recurrent upper respiratory tract infections Prominent supraorbital ridges Back pain Language impairment Stridor Abnormality of the skull Gingivitis Abnormal nerve conduction velocity Abnormal diaphysis morphology Myelopathy Abnormality of peripheral nerve conduction Rhinorrhea Broad femoral neck Delayed ossification of carpal bones Diaphyseal thickening Recurrent ear infections Hypoplasia of teeth Retinal fold Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Large face Sclerosis of skull base Difficulty standing Sagittal craniosynostosis Abnormal aortic valve morphology Diastasis recti Hypoplastic ilia Dysostosis multiplex Abnormality of the respiratory system Tracheal stenosis Beaking of vertebral bodies Communicating hydrocephalus Upper airway obstruction Conical tooth Constrictive median neuropathy Cor pulmonale Flared iliac wings Foam cells Pulmonary edema Abnormal mitral valve morphology Seborrheic dermatitis Endocardial fibroelastosis Aortic tortuosity



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