Epicanthus, and Nephritis

Diseases related with Epicanthus and Nephritis

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


Top matches:

Medium match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Medium match HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS


Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Medium match SCALP-EAR-NIPPLE SYNDROME


Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

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Other less relevant matches:

Medium match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Medium match ISOLATED COMPLEX III DEFICIENCY


Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Medium match FEINGOLD SYNDROME 1; FGLDS1


Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

Medium match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low 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

Top 5 symptoms//phenotypes associated to Epicanthus and Nephritis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Epicanthus and Nephritis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Micrognathia Renal insufficiency Depressed nasal bridge Short stature Cataract Abnormality of the dentition Oral cleft Thick vermilion border Palpebral edema Umbilical hernia Generalized hypotonia Vesicoureteral reflux Ataxia Abnormal facial shape Macrotia Strabismus Feeding difficulties Macrocephaly Hypertension Clinodactyly of the 5th finger Abnormality of the kidney Hypoplastic toenails Hypertelorism Sparse hair Proteinuria Cleft lip Dental malocclusion Recurrent urinary tract infections Pointed chin Pain Sacral dimple Syndactyly 2-3 toe syndactyly EEG abnormality Coarse facial features Blepharophimosis Protruding ear Sleep disturbance Visual loss Depressivity Craniosynostosis Tubulointerstitial nephritis Vomiting Sensorineural hearing impairment Hypohidrosis Spasticity Full cheeks Renal dysplasia Muscular hypotonia Low-set ears Patent ductus arteriosus Ventricular septal defect Brachydactyly High palate Periorbital fullness Ptosis Mandibular prognathia Delayed speech and language development Autistic behavior Malar flattening Gastroesophageal reflux Obesity Nausea and vomiting Lymphedema

Rare Symptoms - Less than 30% cases


Cerebellar cortical atrophy Nystagmus Failure to thrive Recurrent pyelonephritis Hair-pulling Thick eyebrow Vocal cord paralysis Bulbous nose Bruxism Arachnoid cyst Impaired pain sensation Large hands Recurrent skin infections Neonatal hypotonia Hydronephrosis Accelerated skeletal maturation Dental crowding Long eyelashes Dolichocephaly Hypermetropia Deeply set eye Hypertonia Absent speech Upslanted palpebral fissure Hernia Narrow forehead Microdontia Food intolerance Macroglossia Renal cyst Postaxial polydactyly Posteriorly rotated ears Aggressive behavior Exotropia Polydactyly Facial asymmetry High forehead Everted lower lip vermilion Smooth philtrum Scarring Wide mouth Low-set, posteriorly rotated ears Abnormal form of the vertebral bodies Cholangitis Short ribs Hyperreflexia Motor delay Midface retrusion Long philtrum Visual impairment Intellectual disability, mild Behavioral abnormality Rod-cone dystrophy Atrial septal defect Gait disturbance Hypertrophic cardiomyopathy Hyperactivity Cutis laxa Frontal bossing Hallux valgus Developmental regression Small for gestational age Hepatic failure Cardiomegaly Tracheoesophageal fistula Cholestasis Widely spaced teeth Feeding difficulties in infancy Agenesis of corpus callosum Aplasia of the middle phalanx of the hand Telecanthus Hypotelorism Renal agenesis Hemiparesis Hypotrichosis Delayed eruption of teeth Iris coloboma Congenital cataract Stage 5 chronic kidney disease Finger syndactyly Scoliosis Coloboma Abnormality of the pinna Broad nasal tip Cleft palate Scaphocephaly Anteverted nares Myopia Cryptorchidism Dysarthria Down-sloping shoulders Abnormality of the neck Carious teeth Immunodeficiency Glomerulonephritis Pectus excavatum Kyphoscoliosis Narrow nose Abdominal pain Renal hypoplasia Glaucoma Narrow palpebral fissure Agenesis of permanent teeth Nephrolithiasis Pyelonephritis Prominent forehead Downslanted palpebral fissures Irritability Spina bifida occulta Intellectual disability, moderate Hemivertebrae Hypogonadotrophic hypogonadism Sparse eyelashes Trigonocephaly Constipation Autism Abnormality of the fingernails Anxiety Broad forehead Stroke Neoplasm of the endocrine system Corneal opacity Brain neoplasm Skin tags Neurological speech impairment Broad face Pulmonic stenosis Hypoplasia of penis Attention deficit hyperactivity disorder Ulcerative colitis Mitral valve prolapse Short 4th metacarpal Dehydration Abnormality of the cardiovascular system Joint hyperflexibility Vertebral fusion Colitis Abnormality of the sternum Long fingers Postural instability Thoracic scoliosis Abnormal cardiac septum morphology Hypodontia Sudden cardiac death Fragile nails Chest pain Genu valgum Esotropia Basal cell carcinoma Malabsorption Otitis media Dysmetria Tetralogy of Fallot Sprengel anomaly Cerebral cortical atrophy Astrocytoma Odontogenic keratocysts of the jaw Congestive heart failure Multiple impacted teeth Severe hydrocephalus Short distal phalanx of the thumb Palmar pits Orbital cyst Calcification of falx cerebri Histiocytoma Curved fingers Bifid ribs Cardiac rhabdomyoma Ovarian fibroma Parietal bossing Plantar pits Bridged sella turcica Cardiac fibroma Irregular ossification of hand bones Hamartomatous stomach polyps Growth delay Flexion contracture Intrauterine growth retardation Tremor Respiratory distress Myopathy Ovarian carcinoma Kyphosis Joint stiffness Osteoporosis Paralysis Hyperlordosis Joint laxity Pes planus Arthralgia Osteopenia Hypothyroidism Medulloblastoma Micropenis Ectopic calcification Diabetes mellitus Recurrent respiratory infections Short nose Cerebellar hypoplasia Elevated serum creatine phosphokinase Supernumerary ribs Delayed skeletal maturation Cervical ribs Inguinal hernia Hamartomatous polyposis Abnormal heart morphology Fibroma Abnormality of the sense of smell Vertebral wedging Abnormality of extrapyramidal motor function High hypermetropia Coarctation of aorta Retinal vascular tortuosity Abnormality of nervous system morphology Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Thyroid hypoplasia Arterial stenosis Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Vascular tortuosity Abnormality of the ankles Dysgraphia Rectal prolapse Overriding aorta Decreased plasma carnitine Enuresis Villous atrophy Dyslexia Cerebral ischemia Abnormality of refraction Gait imbalance Peripheral pulmonary artery stenosis Periorbital edema Subvalvular aortic stenosis Abnormal renal morphology Lacrimation abnormality Bladder diverticulum Cystic renal dysplasia Peptic ulcer Tubulointerstitial abnormality Aortic arch aneurysm Large earlobe Nystagmus-induced head nodding Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Overfriendliness Myxomatous mitral valve degeneration Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Paroxysmal bursts of laughter Unilateral renal hypoplasia Obsessive-compulsive trait Hyperacusis Nocturia Synostosis of joints Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Pelvic kidney Calcification of the aorta Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Abnormality of the cerebral vasculature Right ventricular hypertrophy Hypsarrhythmia Arnold-Chiari malformation Abnormal dermatoglyphics Progressive hearing impairment Bicuspid aortic valve Ischemic stroke Infantile muscular hypotonia Schizophrenia Reduced bone mineral density Nephrocalcinosis Adducted thumb Abnormality of pelvic girdle bone morphology Incoordination Polycystic ovaries Dysphonia Hypercalciuria Abnormality of dental enamel Increased body weight Redundant skin Open mouth Type II diabetes mellitus Ventricular hypertrophy Small nail Thick lower lip vermilion Myocardial infarction Recurrent otitis media Mitral regurgitation Increased bone mineral density Involuntary movements Amblyopia Gingival overgrowth Aortic valve stenosis Hoarse voice Narrow face Cholelithiasis Hypercalcemia Chronic constipation Soft skin Insomnia Megalocornea Abnormality of lipid metabolism Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Poor coordination Facial cleft Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Multiple renal cysts Blue irides Hypoplasia of the zygomatic bone Restlessness Prematurely aged appearance Failure to thrive in infancy Unilateral renal agenesis Radioulnar synostosis Precocious puberty Portal hypertension Abnormality of the voice Chronic otitis media Obsessive-compulsive behavior Abnormality of dental morphology Disproportionate tall stature Glucose intolerance Polyuria Loss of consciousness Open bite Premature graying of hair Vertebral segmentation defect Celiac disease Milia Cone-shaped epiphyses of the phalanges of the hand Inflammation of the large intestine Cerebellar atrophy Coma Metabolic acidosis Sensory neuropathy Lactic acidosis Retinopathy Muscular hypotonia of the trunk Elevated hepatic transaminase Hypoglycemia Acidosis Dementia Encephalopathy Cerebral atrophy Blindness Increased serum lactate Cardiomyopathy Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Duplication of renal pelvis Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Delayed myelination Pigmentary retinopathy Small earlobe Myoglobinuria Polyhydramnios Clinodactyly Postterm pregnancy Decreased mitochondrial complex III activity in liver tissue Persistent lactic acidosis Mitochondrial encephalopathy Histiocytoid cardiomyopathy Abnormality of the abdominal wall Microvesicular hepatic steatosis Hyperechogenic kidneys Proximal tubulopathy Hyperphosphaturia Rhabdomyolysis Tetraparesis Glycosuria Abnormality of the coagulation cascade Emotional lability Brittle hair Ragged-red muscle fibers Spastic tetraparesis Severe muscular hypotonia Exercise intolerance Aminoaciduria Decreased liver function Hallucinations Hypertrichosis Breast aplasia Aplasia cutis congenita of scalp Anal atresia Hydrops fetalis Membranoproliferative glomerulonephritis Arteriosclerosis Nonimmune hydrops fetalis Hydrocele testis Absent eyelashes Freckling Long nose Reduced subcutaneous adipose tissue Absent eyebrow Pyloric stenosis Chronic kidney disease Sparse and thin eyebrow Telangiectasia Pulmonary lymphangiectasia Eczema Prominent nasal bridge Hyperkeratosis Alopecia Dilatation Edema Posterior fossa cyst Sparse eyebrow Cerebellar vermis hypoplasia Dandy-Walker malformation Ectodermal dysplasia Hematuria Oval face Choroid plexus calcification Ureteral duplication Abnormality of the urinary system Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Short columella Hypoplastic nipples Aplasia cutis congenita Narrow nasal bridge Multiple lipomas Cupped ear Abnormality of the thorax Cutaneous syndactyly Epidermal hyperkeratosis Type I diabetes mellitus Abnormality of the nail Abnormality of the hair Fine hair Abnormality of the skin Nail dysplasia Dry skin Nail dystrophy Microtia Camptodactyly Hyperhidrosis Telangiectasia of extensor surfaces Facial telangiectasia in butterfly midface distribution Toe syndactyly Single transverse palmar crease Melanocytic nevus Cerebral visual impairment Abnormality of the periventricular white matter Poor eye contact Weak cry Cellulitis Polycystic kidney dysplasia Prominent supraorbital ridges Recurrent upper respiratory tract infections Poor head control Increased intracranial pressure Abnormality of the outer ear Short chin Multicystic kidney dysplasia Tall stature Concave nasal ridge Chronic diarrhea Abnormality of the genital system Broad-based gait Hepatitis High, narrow palate Unsteady gait Hyporeflexia Recurrent infections Headache Diarrhea Ventriculomegaly Absence of renal corticomedullary differentiation Heat intolerance Delayed CNS myelination Frontal upsweep of hair Arachnodactyly Relative macrocephaly Neoplasm of the skin Muscle stiffness Spina bifida Bradycardia Hyperpigmentation of the skin Abnormality of the ribs Cerebral calcification Hypotension Nevus Palmoplantar keratoderma Cleft upper lip Papule Episodic vomiting Facial palsy Carcinoma Retrognathia Proptosis Brachycephaly Microphthalmia Hydrocephalus Abnormality of the skeletal system Neoplasm Fulminant hepatic failure Tongue thrusting Hyperorality Toenail dysplasia Short proximal phalanx of finger Accessory oral frenulum Triangular face External ear malformation 4-5 toe syndactyly Small anterior fontanelle Annular pancreas Frontal balding Accessory spleen Intestinal atresia Abnormality of the spleen Duodenal atresia Asplenia Polysplenia Short 5th finger Depressed nasal tip Esophageal atresia Aplasia/Hypoplasia of the middle phalanx of the 5th finger Abnormality of digit Prominent occiput Short middle phalanx of finger Abnormality of the hand Finger clinodactyly Short toe Abnormal vertebral morphology Short thumb Choanal atresia Short palpebral fissure Decreased fetal movement Specific learning disability Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Deviation of the 2nd finger Hypoplasia of the capital femoral epiphysis Hepatic fibrosis Pancreatic cysts Congenital hepatic fibrosis Thoracic dysplasia Recurrent lower respiratory tract infections Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Nephronophthisis Short thorax Short femoral neck Cone-shaped epiphysis Wide anterior fontanel Short phalanx of finger Anemia Sparse scalp hair Bifid uvula Nephropathy Retinal dystrophy Short distal phalanx of finger Abnormality of skin pigmentation Retinal degeneration Skeletal dysplasia Pneumonia Hypoplasia of the corpus callosum Respiratory insufficiency Short neck Hepatomegaly Atrophy/Degeneration involving the corticospinal tracts



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