Cardiomyopathy, and Renal agenesis

Diseases related with Cardiomyopathy and Renal agenesis

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


Top matches:

Medium match RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2


RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016).For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (OMIM ).

Related symptoms:

  • Hepatomegaly
  • Talipes equinovarus
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2

Medium match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Medium match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

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Other less relevant matches:

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match BARDET-BIEDL SYNDROME 2; BBS2


BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 2; BBS2

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Low match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

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 Cardiomyopathy and Renal agenesis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Renal agenesis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Renal hypoplasia Growth delay Abnormal heart morphology Microcephaly Hypertrophic cardiomyopathy Obesity Hypospadias Hypertension Strabismus Micropenis Failure to thrive Unilateral renal agenesis Pulmonic stenosis Renal insufficiency Ptosis Cleft palate Sensorineural hearing impairment Diabetes mellitus Hepatomegaly Epicanthus Micrognathia Neoplasm Congestive heart failure Ataxia Aortic valve stenosis Anemia Small for gestational age Nystagmus Hypothyroidism Hypogonadism Pain Intrauterine growth retardation Abnormality of the kidney Cognitive impairment Acidosis Atrial septal defect Cataract Abnormal facial shape Scoliosis Abnormality of cardiovascular system morphology Delayed speech and language development Feeding difficulties Respiratory insufficiency Generalized hypotonia Hernia Renal dysplasia Inguinal hernia Clinodactyly of the 5th finger Oligohydramnios Cerebral cortical atrophy Cardiomegaly Abnormality of the genital system

Rare Symptoms - Less than 30% cases


Gait disturbance Ventriculomegaly Hypoplasia of the corpus callosum Long philtrum Midface retrusion Thrombocytopenia Postnatal growth retardation Severe short stature High forehead Peripheral neuropathy Attention deficit hyperactivity disorder Short philtrum Prominent nasal bridge Dysarthria Abnormal aortic valve morphology Cystic renal dysplasia Protruding ear Intellectual disability, mild Kyphosis Depressivity Pectus excavatum Mandibular prognathia Kyphoscoliosis Neonatal hypotonia Triangular face Subvalvular aortic stenosis Chest pain Myocardial infarction Mitral regurgitation Cafe-au-lait spot Spina bifida occulta Bilateral cryptorchidism Multiple cafe-au-lait spots Broad nasal tip Dysmetria Tremor Sloping forehead Failure to thrive in infancy Reduced bone mineral density Tracheoesophageal fistula Glucose intolerance Wide mouth Flexion contracture Muscular hypotonia Abnormal renal morphology Severe muscular hypotonia Tetralogy of Fallot Abnormality of nervous system morphology Increased serum lactate Aplasia/Hypoplasia of the iris Lactic acidosis Abnormal carotid artery morphology Absent speech Myopathy Recurrent urinary tract infections Abnormality of the foot Short neck Bicuspid aortic valve Insulin resistance Hypergonadotropic hypogonadism Bone marrow hypocellularity Leukopenia Ectopic kidney Abnormality of lipid metabolism Renal cyst Unilateral renal hypoplasia Abnormal cardiac septum morphology Visual impairment Hyperreflexia Frontal bossing Respiratory distress Patent ductus arteriosus Umbilical hernia Pes planus Irritability Hypotelorism Dilated cardiomyopathy Abnormality of the skeletal system Renal tubular acidosis Ischemic stroke Stroke Chronic kidney disease Abnormality of the urinary system Proteinuria Rod-cone dystrophy Vesicoureteral reflux Polycystic ovaries Nephrocalcinosis Aplasia of the uterus Fatigue Pectus carinatum Hypertelorism Low-set ears Hyperlordosis Feeding difficulties in infancy Pelvic kidney Autistic behavior Low-set, posteriorly rotated ears Intellectual disability, moderate Cleft lip Joint laxity Paralysis Developmental regression Arthralgia Anxiety Coarse facial features Hyperacusis Craniosynostosis Osteopenia Macrotia Gastroesophageal reflux Increased nuchal translucency Autism Glaucoma Abdominal pain Joint stiffness Broad forehead Blepharophimosis Flat cornea Macroglossia Hypodontia Postural instability Sleep disturbance Calcification of the aorta Everted lower lip vermilion Thick vermilion border Descending aorta hypoplasia Oral cleft Impaired visuospatial constructive cognition Supravalvular aortic stenosis Smooth philtrum Abnormal social behavior Food intolerance Joint hyperflexibility Genu valgum Malabsorption Renovascular hypertension Carious teeth Nausea and vomiting Neurological speech impairment Abnormal glucose tolerance Abnormality of the gastric mucosa Corneal opacity Recurrent respiratory infections Infantile hypercalcemia Scarring Osteoporosis Elevated serum creatine phosphokinase Cerebellar hypoplasia Obsessive-compulsive trait Increased CSF lactate Hypoventilation Hyperkalemia Abnormality of the ankles Hyponatremia Tubulointerstitial abnormality CNS hypomyelination Overriding aorta Aortic arch aneurysm Fasciculations Decreased liver function Pachygyria Epileptic encephalopathy Nocturia Tongue fasciculations Delayed myelination Hepatic steatosis Synostosis of joints Arthrogryposis multiplex congenita Lethargy Respiratory failure Myoclonus Hyporeflexia Areflexia Encephalopathy Abnormality of the bladder Cerebral atrophy Renal artery stenosis Vocal cord dysfunction Breech presentation Microvesicular hepatic steatosis Constipation Wide nasal bridge Full cheeks Delayed skeletal maturation Malar flattening Retinal vascular tortuosity Short nose Behavioral abnormality Hypertonia Abnormality of the dentition Thyroid hypoplasia Abnormal endocardium morphology Ventricular septal defect Macrocephaly Myopia Depressed nasal bridge Vascular tortuosity Spasticity 3-Methylglutaconic aciduria Severe lactic acidosis Severe failure to thrive Rocker bottom foot Hyperammonemia Spontaneous abortion Cardiac arrest Aciduria Metabolic acidosis Renal duplication Camptodactyly Retrognathia Colonic diverticula Urethral stenosis Narrow forehead Sudden cardiac death Portal hypertension Abnormality of the neck Open bite Loss of consciousness Polyuria Hypoplastic toenails Abnormality of dental morphology Abnormality of the cerebral vasculature Enuresis Obsessive-compulsive behavior Chronic otitis media Nephritis Abnormality of the voice Precocious puberty Premature graying of hair Radioulnar synostosis Hypercalcemia Redundant skin Villous atrophy Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyslexia Cerebral ischemia Dyssynergia Abnormality of the preputium Hallux valgus Large earlobe Gait imbalance Down-sloping shoulders Medial flaring of the eyebrow Abnormality of the vasculature Elfin facies Abnormality of the diencephalon Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Paroxysmal bursts of laughter Patellar dislocation Multiple renal cysts Arnold-Chiari type I malformation Posterior embryotoxon Vertebral segmentation defect Vocal cord paralysis Blue irides Megalocornea Insomnia Restlessness Hypoplasia of the zygomatic bone Facial cleft Chronic constipation Right ventricular hypertrophy Prematurely aged appearance Tubulointerstitial nephritis High hypermetropia Celiac disease Abnormality of refraction Periorbital fullness Dental malocclusion Thick lower lip vermilion Hoarse voice Gingival overgrowth Arterial stenosis Amblyopia Nephrolithiasis Involuntary movements Dysgraphia Abnormal form of the vertebral bodies Phonophobia Open mouth Recurrent otitis media Hemiparesis Small nail Periorbital edema Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Coarctation of aorta Abnormality of extrapyramidal motor function Hypoplasia of penis Mitral valve prolapse Parathyroid hyperplasia Abnormality of the cardiovascular system Dehydration Microdontia Otitis media Esotropia Rectal prolapse Narrow face Cholelithiasis Sacral dimple Hypercalciuria Myxomatous mitral valve degeneration Decreased plasma carnitine Dysphonia Incoordination Abnormality of pelvic girdle bone morphology Peripheral pulmonary artery stenosis Stellate iris Functional abnormality of male internal genitalia Adducted thumb Arnold-Chiari malformation Schizophrenia Infantile muscular hypotonia Lacrimation abnormality Increased bone mineral density Coronary artery stenosis Widely spaced teeth Progressive hearing impairment Bladder diverticulum Abnormal dermatoglyphics Cutis laxa Abnormality of the fingernails Abnormality of dental enamel Peptic ulcer Hemivertebrae Hypogonadotrophic hypogonadism Pointed chin Increased body weight Retinal arteriolar tortuosity Short thumb Pyridoxine-responsive sideroblastic anemia Posteriorly rotated ears Severe hearing impairment Bundle branch block Cubitus valgus Pterygium Mutism Scapular winging Depressed nasal ridge Overgrowth Webbed neck Syncope Delayed puberty Conductive hearing impairment Hyperkeratosis Alopecia Missing ribs Arrhythmia Dilatation Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Proximal renal tubular acidosis Distal renal tubular acidosis Uterus didelphys Heart block Angina pectoris Ovarian cyst Pes cavus Convex nasal ridge Progressive cerebellar ataxia Polyneuropathy Sensory neuropathy Falls Long face Synophrys Hypermetropia Abnormal pyramidal sign Retinopathy Sparse hair Rigidity Deeply set eye Babinski sign Hyposmia Clinodactyly Recurrent infections Immunodeficiency Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Abnormal mitral valve morphology Hypocalcemic seizures Vaginal atresia Limb undergrowth Primary amenorrhea Elevated circulating follicle stimulating hormone level Labial hypoplasia Sparse pubic hair Sparse axillary hair Male pseudohermaphroditism Shawl scrotum Abnormality of the ureter Prominent occiput Diabetes insipidus Bifid scrotum Growth abnormality Bilateral single transverse palmar creases Gynecomastia Ambiguous genitalia Menstrual irregularities Wide intermamillary distance Pancreatic dysplasia Heterotaxy Agenesis of cerebellar vermis Asplenia Truncus arteriosus Enlarged kidney Femoral bowing Situs inversus totalis Hepatic fibrosis Cholestasis Pulmonary hypoplasia Narrow chest Patellar aplasia Elevated circulating luteinizing hormone level Tetany Hematuria Severe postnatal growth retardation Hypoparathyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Psoriasiform dermatitis Polycystic kidney dysplasia Hyperkinesis Multicystic kidney dysplasia Hypocalcemia Horizontal nystagmus Nephrotic syndrome Bilateral sensorineural hearing impairment Ectodermal dysplasia Hydronephrosis Pseudohypoparathyroidism Myalgia Muscle weakness Scrotal hypospadias Incomplete male pseudohermaphroditism Penoscrotal transposition Blind vagina Absent facial hair Female external genitalia in individual with 46,XY karyotype Abnormal external genitalia Penoscrotal hypospadias Abnormality of the urethra Nephrogenic diabetes insipidus Dimple chin Perineal hypospadias Decreased testicular size Pigmentary retinopathy Aplasia/Hypoplasia of fingers Absent thumb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Myeloid leukemia Hydroureter Aplastic anemia Squamous cell carcinoma Hypoplasia of the ulna Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of vision Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Type I diabetes mellitus Horseshoe kidney Spina bifida Abnormality of the upper limb Abnormality of the uterus Talipes equinovarus Complete duplication of thumb phalanx Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Low-grade fever Abnormality of the testis Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormal vertebral morphology Telangiectasia Bradykinesia Cortical gyral simplification Polydactyly Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Cerebellar vermis atrophy Long nose Truncal obesity High pitched voice Postaxial polydactyly Sensory axonal neuropathy Postural tremor Dysdiadochokinesis Slurred speech Goiter Acanthosis nigricans Short chin Lymphopenia Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Epidermal acanthosis Apraxia Retinal degeneration Postaxial hand polydactyly Aganglionic megacolon Dolichocephaly Choanal atresia Short palpebral fissure Pancytopenia Lymphoma Hypopigmentation of the skin Neutropenia Bruising susceptibility Abnormality of skin pigmentation Vertigo Astigmatism Anal atresia Facial asymmetry Toe syndactyly Hip dislocation External genital hypoplasia Finger syndactyly Leukemia Abnormality of the liver Abnormality of the eye Carcinoma Proptosis Weight loss Upslanted palpebral fissure Headache Microphthalmia Hydrocephalus Fever High palate Secundum atrial septal defect Atrophy/Degeneration involving the corticospinal tracts



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