Congestive heart failure, and Renal hypoplasia

Diseases related with Congestive heart failure and Renal hypoplasia

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


Top matches:

Medium 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

Medium match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Medium match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Medium match WILLIAMS SYNDROME


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

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match 3MC SYNDROME 3; 3MC3


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

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 TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Low match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Low match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Top 5 symptoms//phenotypes associated to Congestive heart failure and Renal hypoplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Renal hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate

Common Symptoms - More than 50% cases


Hypertension

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormal heart morphology

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Dilatation Abnormal facial shape Pulmonic stenosis Intellectual disability, mild Renal agenesis Ptosis Hearing impairment Abnormality of the kidney Unilateral renal agenesis Intrauterine growth retardation Abnormality of the skeletal system Myopia Strabismus Depressivity Clinodactyly of the 5th finger Blepharophimosis Broad forehead Macrotia Hemivertebrae Failure to thrive Respiratory insufficiency Hypospadias Micropenis Patent ductus arteriosus Microcephaly Generalized hypotonia Radioulnar synostosis Long nose Coarctation of aorta Macrocephaly Epicanthus Delayed speech and language development Cognitive impairment Cataract Depressed nasal bridge Sensorineural hearing impairment Hernia Missing ribs Small hand Spina bifida occulta Pointed chin Tetralogy of Fallot Vesicoureteral reflux Scarring Craniosynostosis Protruding ear Conductive hearing impairment Autism Portal hypertension Congenital diaphragmatic hernia Vertebral segmentation defect Low-set, posteriorly rotated ears Intellectual disability, moderate Multiple renal cysts Renal insufficiency Triangular face Coarse facial features Aortic valve stenosis Pain Hepatomegaly Abnormality of cardiovascular system morphology Feeding difficulties Wide nasal bridge Hypertrophic cardiomyopathy Respiratory distress Delayed skeletal maturation Malar flattening Muscular hypotonia Wide mouth Facial asymmetry Clinodactyly Ataxia Frontal bossing

Rare Symptoms - Less than 30% cases


Subvalvular aortic stenosis Omphalocele Esotropia Preaxial polydactyly Chest pain Posterior embryotoxon Renal hypoplasia/aplasia Abnormality of the vasculature Pulmonary artery stenosis Bifid scrotum Oral cleft Smooth philtrum Highly arched eyebrow Tachycardia Talipes Abnormality of the pinna Hypodontia Spontaneous abortion Thick lower lip vermilion Prominent nose Small nail Telecanthus Cardiac arrest Abnormality of the ribs Cholestasis Oligohydramnios Facial cleft Renal dysplasia Postnatal growth retardation Polydactyly Abnormal vertebral morphology Cardiomegaly Multicystic kidney dysplasia Hypoplasia of penis Peripheral pulmonary artery stenosis Renal artery stenosis Joint hyperflexibility Flexion contracture Kyphoscoliosis Gastroesophageal reflux Posteriorly rotated ears Potter facies Acidosis Spasticity Cardiomyopathy Visual impairment Bundle branch block Umbilical hernia Behavioral abnormality Kyphosis Short nose Long philtrum Midface retrusion Absent speech Obesity Pectus excavatum Short neck Pes planus Aortic regurgitation Hydronephrosis Arterial stenosis Short toe Corneal opacity Myocardial infarction Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Coloboma Autistic behavior Microphthalmia Atelectasis Short philtrum Pulmonary hypoplasia Renal cyst Dehydration Depressed nasal ridge Ventriculomegaly Talipes equinovarus Cleft lip Microcornea Abnormal form of the vertebral bodies Flat face Gait ataxia Arnold-Chiari type I malformation Brachydactyly Downslanted palpebral fissures Abnormality of the dentition Syndactyly Neoplasm Arrhythmia Loss of consciousness Hepatosplenomegaly Bicuspid aortic valve Scapular winging Short chin Joint laxity Tracheoesophageal fistula Paralysis Specific learning disability Syncope Abnormality of the genital system Inguinal hernia Deeply set eye Recurrent urinary tract infections Malabsorption Delayed puberty Anal atresia Stroke Mitral regurgitation Stage 5 chronic kidney disease Abnormality of the liver Nocturia Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Alopecia Phonophobia Abnormality of the bladder Fatigue Synostosis of joints Prominent coccyx Urethral valve Coronary artery stenosis Abnormality of refraction Retinal arteriolar tortuosity Caudal appendage Hyperacusis Pelvic kidney Penoscrotal hypospadias Tubulointerstitial abnormality Hyperkeratosis Cerebral ischemia Overgrowth Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Retinal vascular tortuosity Thyroid hypoplasia Parathyroid hyperplasia Atrophy/Degeneration involving the corticospinal tracts Abnormal endocardium morphology Vocal cord dysfunction Webbed neck Descending aorta hypoplasia Pectus carinatum Aplasia/Hypoplasia of the iris Renal duplication Neonatal hypotonia Mandibular prognathia Colonic diverticula Vascular tortuosity Abnormality of the ankles Infantile hypercalcemia Food intolerance Renovascular hypertension Abnormality of the gastric mucosa Thyroid hemiagenesis Cystic renal dysplasia Elbow dislocation Epiphyseal dysplasia Peptic ulcer Dysgraphia Abnormality of the genitourinary system Scrotal hypoplasia Functional abnormality of male internal genitalia Wormian bones Bilateral vocal cord paralysis Gait imbalance Bladder diverticulum Periorbital fullness Decreased plasma carnitine Nystagmus-induced head nodding Overfriendliness Abnormal renal morphology Early onset of sexual maturation Cleft upper lip Rectal prolapse Periorbital edema Dyssynergia Abnormality of nervous system morphology Supernumerary nipple Stellate iris Bilateral cleft lip and palate Epicanthus inversus Abnormal social behavior Skin dimples Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Bilateral conductive hearing impairment Calcification of the aorta Unilateral renal hypoplasia Edema Paroxysmal bursts of laughter Shawl scrotum Diastasis recti Short 5th finger Bilateral cleft lip Broad foot Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Muscular hypotonia of the trunk Lacrimation abnormality Irregular vertebral endplates Myxomatous mitral valve degeneration Relative macrocephaly Cafe-au-lait spot Ambiguous genitalia Ectopic kidney Dextrocardia Preaxial hand polydactyly Triphalangeal thumb Laryngomalacia Hypoplasia of the radius Tachypnea Abnormality of the outer ear Spina bifida Situs inversus totalis Preauricular skin tag Short thumb Large fontanelles Choanal atresia Premature birth Hypoplastic left heart Absent nasal bridge Severe intrauterine growth retardation Hydrocele testis Optic nerve coloboma Pulmonary artery atresia Chorioretinitis Widely-spaced maxillary central incisors Anemia Intestinal malrotation Dysphagia Hydrocephalus Pneumonia Polyhydramnios Respiratory tract infection Finger syndactyly Right bundle branch block Non-midline cleft lip Syringomyelia Abnormality of the urethra Abnormal sacrum morphology Abnormality of the nasopharynx Laryngeal stenosis Vertebral clefting Lower limb undergrowth Abnormality of the intervertebral disk Anorectal anomaly Tethered cord Absence of the sacrum Hemifacial hypoplasia Abnormality of the gallbladder Perineal fistula Abnormal tracheobronchial morphology Asymmetric crying face Supernumerary ribs Cavernous hemangioma Abnormality of the sternum Esophageal atresia Transposition of the great arteries Occipital encephalocele Wheezing Absent radius Aplasia/Hypoplasia of the radius Anencephaly Aplasia/Hypoplasia of the lungs Ureteropelvic junction obstruction Single umbilical artery Tracheal stenosis Duodenal atresia Rectovaginal fistula Abnormality of the pancreas Abnormality of female internal genitalia Severe combined immunodeficiency Combined immunodeficiency Mutism Numerous nevi Progressive visual loss Convex nasal ridge Iris coloboma Long face Dolichocephaly Hip dislocation Mental deterioration Agenesis of corpus callosum Intellectual disability, severe Hypoplasia of the corpus callosum Optic atrophy Nystagmus Aplasia of the ovary Coronary artery aneurysm Hypoplasia of the ovary Intellectual disability, profound Angina pectoris Pterygium Cubitus valgus Bilateral cryptorchidism Severe hearing impairment Multiple cafe-au-lait spots Heart block Hyposmia Third degree atrioventricular block Abnormal mitral valve morphology Abnormal aortic valve morphology Limited elbow movement Multiple lentigines Parietal bossing Delayed menarche Bilateral sensorineural hearing impairment Dental crowding Anophthalmia Underdeveloped nasal alae Anteverted nares Immunodeficiency Recurrent infections Hyperactivity EEG abnormality Tapered finger Psychosis Posterior staphyloma Narrow palpebral fissure Microretrognathia Pyloric stenosis Bilateral ptosis Hand polydactyly Language impairment Motor delay Short 2nd toe Abnormal palate morphology Congenital nystagmus Aplasia/Hypoplasia of the corpus callosum Genu varum Villous atrophy Aortic aneurysm Chorioretinal coloboma Bowing of the legs Neurogenic bladder Scleral staphyloma Hypoplasia of teeth Profound global developmental delay Colpocephaly Short upper lip Lens luxation Lop ear Dyslexia Microdontia Enuresis Exotropia Renal tubular acidosis Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Chorioretinal atrophy Malnutrition Hypoplasia of the ulna Heart murmur Glomerulosclerosis Corneal dystrophy Hypercholesterolemia Finger clinodactyly Lymphedema Hypertriglyceridemia Exocrine pancreatic insufficiency Nephrotic syndrome Pigmentary retinopathy Gastrointestinal hemorrhage Round face Hypopigmentation of the skin Short distal phalanx of finger Hepatic failure Cirrhosis Abnormality of skin pigmentation Pruritus Retinopathy Carcinoma Elevated hepatic transaminase Abnormality of the ureter Hepatocellular carcinoma Brachycephaly Multiple small medullary renal cysts Enlarged kidney Polycystic kidney dysplasia Chronic kidney disease Hepatic fibrosis Abnormal lung morphology Respiratory failure Splenomegaly Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Vitamin D deficiency Dilatation of the cerebral artery Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Hypopigmentation of the fundus Fat malabsorption Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Jaundice Upslanted palpebral fissure Esophageal varix Fever Hypoplasia of dental enamel Palpitations Tetraparesis Short palpebral fissure Short metacarpal Hypoplasia of the maxilla Delayed eruption of teeth Short foot Inability to walk Short palm Bulbous nose Toe syndactyly Thin upper lip vermilion High palate Short phalanx of finger Muscle weakness 3-Methylglutaconic aciduria Severe lactic acidosis Severe failure to thrive Rocker bottom foot Hyperammonemia Severe muscular hypotonia Aciduria Increased serum lactate Metabolic acidosis Lactic acidosis Prominent nasal bridge Camptodactyly Retrognathia Decreased body weight Ventricular tachycardia Prominent forehead Periodic paralysis Areflexia Visual loss Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Persistence of primary teeth Scaphocephaly Oligodontia Hyperthyroidism Abnormal heart valve morphology Slender long bone Agenesis of permanent teeth Prolonged QT interval Hyperkalemia High pitched voice 2-3 toe syndactyly Preauricular pit Myotonia Hypokalemia Short metatarsal Growth abnormality Ventricular arrhythmia Chronic lung disease Cholangitis Abnormality of the cerebral vasculature Ischemic stroke Hypercalcemia Redundant skin Cholelithiasis Hypercalciuria Dysphonia Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Schizophrenia Infantile muscular hypotonia Sacral dimple Precocious puberty Widely spaced teeth Progressive hearing impairment Abnormal dermatoglyphics Cutis laxa Abnormality of the fingernails Abnormality of dental enamel Nephrocalcinosis Hypogonadotrophic hypogonadism Increased body weight Increased bone mineral density Narrow face Hoarse voice Gingival overgrowth Amblyopia Failure to thrive in infancy Abnormality of the voice Involuntary movements Abnormality of lipid metabolism Abnormality of the neck Large earlobe Tubulointerstitial nephritis Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Patellar dislocation Poor coordination Soft skin Nevus flammeus Megalocornea Nephritis Insomnia Restlessness Prematurely aged appearance High hypermetropia Celiac disease Premature graying of hair Hallux valgus Open bite Polyuria Glucose intolerance Hypoplastic toenails Abnormality of dental morphology Obsessive-compulsive behavior Chronic otitis media Nephrolithiasis Open mouth Congenital hepatic fibrosis Myopathy Osteopenia High forehead Hypothyroidism Cerebral cortical atrophy Glaucoma Abdominal pain Diabetes mellitus Osteoporosis Recurrent respiratory infections Cerebellar hypoplasia Constipation Elevated serum creatine phosphokinase Hypertonia Gait disturbance Anxiety Tremor Dysarthria Hyperreflexia Absence of renal corticomedullary differentiation Azotemia Hypoplasia of the ear cartilage Periportal fibrosis Hematemesis Hypersplenism Portal fibrosis Biliary tract abnormality Tubulointerstitial fibrosis Hepatic cysts Pancreatic cysts Arthralgia Proteinuria Recurrent otitis media Macroglossia Hemiparesis Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Abnormality of extrapyramidal motor function Mitral valve prolapse Hypotelorism Narrow forehead Abnormality of the cardiovascular system Otitis media Dental malocclusion Sudden cardiac death Full cheeks Broad nasal tip Feeding difficulties in infancy Postural instability Sleep disturbance Everted lower lip vermilion Thick vermilion border Dysmetria Genu valgum Carious teeth Nausea and vomiting Neurological speech impairment Small for gestational age Joint stiffness Irritability Hyperlordosis Developmental regression Patent urachus



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