Cardiomyopathy, and Congenital diaphragmatic hernia

Diseases related with Cardiomyopathy and Congenital diaphragmatic hernia

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Congenital diaphragmatic hernia that can help you solving undiagnosed cases.


Top matches:

Low match 8P23.1 MICRODELETION SYNDROME


8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

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Other less relevant matches:

Low match ISOLATED COMPLEX I DEFICIENCY


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

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Low match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

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 GNE MYOPATHY


GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

GNE MYOPATHY Is also known as nonaka myopathy|ibm2|distal myopathy, nonaka type|hibm2|dmrv|distal myopathy with rimmed vacuoles|hereditary inclusion body myopathy type 2|quadriceps-sparing myopathy|inclusion body myopathy type 2

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNE MYOPATHY

Low match MUSCULAR DYSTROPHY, SELCEN TYPE


Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUSCULAR DYSTROPHY, SELCEN TYPE

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I


Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

Low match GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET


Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypospadias Scoliosis Hepatomegaly Macrocephaly Hypoglycemia Macroglossia Hearing impairment Muscle weakness Failure to thrive Elevated serum creatine phosphokinase Hernia Cryptorchidism Atrial septal defect Growth delay Respiratory insufficiency Abnormal facial shape Wide nasal bridge Feeding difficulties Abnormality of cardiovascular system morphology Blindness Scapular winging Sensorineural hearing impairment Neoplasm Abnormality of the skeletal system Inguinal hernia Mandibular prognathia Proptosis Hypothyroidism Ventricular septal defect Respiratory failure Cardiomegaly Hydrocephalus Relative macrocephaly Abnormal heart morphology Arrhythmia Syndactyly Agenesis of corpus callosum Cleft palate Talipes equinovarus Short neck Thin vermilion border Muscular hypotonia Myopathy Strabismus Microcephaly Limb muscle weakness Intrauterine growth retardation Proximal muscle weakness Obesity Short stature Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Peripheral neuropathy Anemia Ptosis Respiratory distress Optic atrophy Incoordination Dysphagia Cataract Vomiting Difficulty walking Posterior helix pit Muscular dystrophy Abnormal lung morphology Hepatoblastoma Toe walking Abnormality of earlobe Hyporeflexia Severe short stature Nystagmus Irritability Facial palsy Aspiration Tricuspid regurgitation Preauricular pit Left ventricular hypertrophy Gastroesophageal reflux Chordee Mitral regurgitation Lower limb muscle weakness Pallor Pigmentary retinopathy Myalgia Cardiac arrest EMG: myopathic abnormalities Steppage gait Wide nose Weak cry Shoulder girdle muscle weakness Dilated cardiomyopathy Aspiration pneumonia Retrognathia Kyphoscoliosis Pneumonia Glaucoma Restrictive ventilatory defect Congestive heart failure Ureteral duplication Feeding difficulties in infancy Midface retrusion Hyperactivity Autism Polyhydramnios Coarse facial features Umbilical hernia Wide mouth Hypertelorism Neurological speech impairment Cleft upper lip Vesicoureteral reflux Premature birth Pulmonic stenosis Omphalocele Splenomegaly High, narrow palate Tall stature Upslanted palpebral fissure Low-set ears High palate Epicanthus Downslanted palpebral fissures Behavioral abnormality Short nose Webbed neck Transposition of the great arteries Abnormal cardiac septum morphology Prominent nasal bridge Poor speech Tapered finger Renal cyst Broad thumb Proximal placement of thumb Toe syndactyly Diaphragmatic weakness Nephroblastoma Vertebral fusion Anteverted nares Abnormality of the dentition Intellectual disability, severe Enlarged kidney Clinodactyly of the 5th finger Neuroblastoma Diastasis recti Motor delay Abnormality of digit Hypertension Depressed nasal bridge Accelerated skeletal maturation Wide anterior fontanel Large for gestational age Vertigo Thick eyebrow Pulmonary hypoplasia Astigmatism Short toe Micromelia Preauricular skin tag Meckel diverticulum Synophrys Downturned corners of mouth Hip dislocation Small for gestational age Craniosynostosis Autistic behavior Respiratory tract infection Postnatal growth retardation Abnormality of the pinna Camptodactyly Telecanthus Hirsutism Delayed eruption of teeth Small hand Clumsiness Broad palm Microdontia Abnormal lung lobation Otitis media Broad foot Cerebellar vermis hypoplasia Sepsis Triangular face Low hanging columella Abnormality of the genital system Highly arched eyebrow Polysplenia Renal dysplasia Microcornea Cerebral visual impairment Proteinuria Sleep disturbance Duodenal atresia Renal neoplasm Furrowed tongue Single transverse palmar crease Aggressive behavior Hyperhidrosis Conductive hearing impairment 2-3 finger syndactyly Ankyloglossia Increased IgE level Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Vertebral segmentation defect Birth length greater than 97th percentile Nephroblastomatosis Broad secondary alveolar ridge Narrow sacroiliac notch Short sacroiliac notch Abnormality of the hand Prolonged QT interval Cupped ear Short 2nd finger Penoscrotal hypospadias Supernumerary nipple Bundle branch block Broad toe Hydroureter Bilateral talipes equinovarus Embryonal neoplasm Abnormality of the voice Narrow palpebral fissure Thin upper lip vermilion Congenital hip dislocation Abnormality of the helix Narrow mouth Brachycephaly Cervical ribs Prominent forehead Delayed skeletal maturation Clinodactyly Thrombocytopenia Headache Hoarse voice Long philtrum Submucous cleft lip Flared iliac wings Multicystic kidney dysplasia Hypertonia Fever Myopia Delayed speech and language development Two carpal ossification centers present at birth Cyst of the ductus choledochus Aplasia/Hypoplasia of the abdominal wall musculature Cleft lower lip Pancreatic islet-cell hyperplasia Absent hand High myopia Gait ataxia Demyelinating peripheral neuropathy Thoracic scoliosis Axonal loss Spinal rigidity Generalized amyotrophy Impaired vibratory sensation Nasal speech Easy fatigability Knee flexion contracture Sensory impairment Polyneuropathy Distal sensory impairment Paralysis Pes cavus Myofibrillar myopathy Flexion contracture Abnormality of the right hemidiaphragm EMG: myotonic discharges EMG: positive sharp waves Abnormality of the foot musculature Muscle fiber inclusion bodies Hip flexor weakness Limited wrist extension Tibialis muscle weakness Quadriceps muscle weakness Limited shoulder movement Weakness of long finger extensor muscles Fatty replacement of skeletal muscle Shoulder girdle muscle atrophy Restrictive cardiomyopathy Skeletal myopathy Absent Achilles reflex Pelvic girdle muscle weakness Increased muscle glycogen content Abnormality of refraction Bowel incontinence Progressive muscle weakness Urinary incontinence Dilatation Cognitive impairment Reduced muscle fiber merosin Reduced muscle fiber alpha dystroglycan Thigh hypertrophy Abnormality of the Achilles tendon Exercise-induced myoglobinuria Nocturnal hypoventilation Restrictive deficit on pulmonary function testing Muscle fiber splitting Left ventricular failure Achilles tendon contracture Difficulty running Difficulty climbing stairs Calf muscle hypertrophy Congenital muscular dystrophy Limb-girdle muscular dystrophy Frequent falls Waddling gait Muscle cramps Falls Hyperlordosis Kyphosis Diaphragmatic paralysis Lower limb amyotrophy Rimmed vacuoles Blue sclerae Short metatarsal Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Clubbing Self-injurious behavior Pyloric stenosis Deep philtrum Hiatus hernia Abnormality of the urinary system Hypoplasia of the radius Widely spaced teeth Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Low anterior hairline Long eyelashes Recurrent urinary tract infections Choanal atresia Hypertrichosis Low posterior hairline Renal hypoplasia Poor appetite Esophagitis Mildly elevated creatine phosphokinase Hypoplastic male external genitalia Increased variability in muscle fiber diameter Foot dorsiflexor weakness Dementia 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 Curly eyelashes Hypoplastic labia majora Abnormality of the ribs Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Small nail Global brain atrophy Hypoplasia of penis Specific learning disability Hypopigmented skin patches Sacral dimple Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Abnormality of retinal pigmentation Amblyopia Status epilepticus Ambiguous genitalia Mitral valve prolapse Hypopigmentation of the skin Dermal atrophy Retinal dystrophy Iris coloboma Tachycardia Abnormality of skin pigmentation Anal atresia Nail dystrophy Corneal opacity Skin rash Coloboma Blepharophimosis Erythema Dyspnea Micropenis Mutism Patent foramen ovale Visual loss Abnormal eyelash morphology Abnormal nasolacrimal system morphology Epispadias Periventricular leukomalacia Colpocephaly Abnormality of the testis Supraventricular tachycardia Echolalia Retinal dysplasia Abnormal eyelid morphology Ocular albinism Sclerocornea Male pseudohermaphroditism Posterior embryotoxon Clitoral hypertrophy Anencephaly Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Aplasia/Hypoplasia of the skin Abnormality of the ear Congenital glaucoma Hypoplasia of the uterus Dysphasia Aphasia Albinism Ventricular fibrillation Anophthalmia Hypogonadism Abnormality of metabolism/homeostasis Abnormality of the anus Broad hallux phalanx Melanocytic nevus Redundant skin Hypercalciuria Arnold-Chiari malformation Sleep apnea Nephrolithiasis Large fontanelles Prominent nose Nephropathy Long face Enlarged thorax Abnormal aortic morphology Pulmonary artery stenosis Neurodevelopmental delay External ear malformation Biparietal narrowing Atrioventricular canal defect Hypoplastic left heart Tetralogy of Fallot Wide intermamillary distance Full cheeks Attention deficit hyperactivity disorder Deeply set eye Pes planus High forehead Weight loss Intellectual disability, mild Prominent occiput Polycythemia Microphthalmia Leiomyosarcoma Subchorionic septal cyst Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Branchial cyst Infra-orbital crease Adrenocortical carcinoma Facial hemangioma Urogenital fistula Elevated alpha-fetoprotein Prominent metopic ridge Anterior creases of earlobe Choroideremia Asymmetric growth Pseudohypoparathyroidism Otosclerosis Rhabdomyosarcoma Visceromegaly Gonadoblastoma Hemihypertrophy Multiple renal cysts Nevus flammeus Neonatal hypoglycemia Exocrine pancreatic insufficiency Tricuspid valve prolapse Overriding aorta Postaxial hand polydactyly Mitochondrial myopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Cerebral edema Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Cardiorespiratory arrest Progressive encephalopathy Macrovesicular hepatic steatosis Optic neuropathy Renal tubular acidosis Basal ganglia calcification Poor eye contact Progressive spasticity Pericardial effusion Adrenal insufficiency Oral-pharyngeal dysphagia Ragged-red muscle fibers Leukoencephalopathy Shock Pancreatitis Exercise intolerance Infantile encephalopathy Cardiogenic shock Leukodystrophy Short palm Overgrowth Dandy-Walker malformation Nail dysplasia Dental malocclusion Intestinal malrotation Bifid uvula Broad nasal tip Short foot Retinal detachment Thick vermilion border Postaxial polydactyly Short distal phalanx of finger Facial asymmetry Progressive macrocephaly Congenital cataract Finger syndactyly Camptodactyly of finger Low-set, posteriorly rotated ears Cleft lip Hydronephrosis Polydactyly Pectus excavatum Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Horizontal nystagmus Ventricular hypertrophy Mandibular aplasia Ataxia Myoclonus Babinski sign Areflexia Encephalopathy Renal insufficiency Dystonia Cerebellar atrophy Edema Fatigue Hyperreflexia Visual impairment Spasticity Anal fistula Muscular hypotonia of the trunk Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Acidosis Abnormality of the eye Coarctation of aorta Dyskinesia Optic disc pallor Cyanosis Febrile seizures Increased serum lactate Migraine Brain atrophy Gliosis Generalized myoclonic seizures Progressive cerebellar ataxia Abnormal cerebellum morphology Coma Metabolic acidosis Hepatic steatosis Hepatic failure Mental deterioration Lactic acidosis Stage 5 chronic kidney disease Talipes Abnormality of movement Abnormality of eye movement Lethargy Severe global developmental delay Stroke Abnormal pyramidal sign Retinopathy Abnormality of the liver Developmental regression Apnea Abnormality of lysosomal metabolism



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