Cryptorchidism, and Sudden cardiac death

Diseases related with Cryptorchidism and Sudden cardiac death

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Sudden cardiac death that can help you solving undiagnosed cases.

Top matches:

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

High 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

Other less relevant matches:

Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.

SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME Is also known as siddt

Related symptoms:

  • Growth delay
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Arrhythmia
  • Hyporeflexia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME

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

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Sudden cardiac death

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Cardiac arrest Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cryptorchidism and Sudden cardiac death. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Short stature Epicanthus Depressed nasal bridge Hypospadias Cardiomyopathy Seizures Abnormal heart morphology Flexion contracture Microcephaly Feeding difficulties Wide nasal bridge Abnormality of cardiovascular system morphology Scoliosis Talipes equinovarus Cleft palate Hearing impairment Umbilical hernia Arrhythmia Atrial septal defect Ataxia Hoarse voice Hypertension Gastroesophageal reflux Feeding difficulties in infancy Pectus excavatum Growth delay Muscular hypotonia Inguinal hernia Ventricular septal defect Hyporeflexia Prematurely aged appearance Short palm Carious teeth Pes planus Irritability Abnormality of the voice Low-set, posteriorly rotated ears Aortic valve stenosis Abnormal facial shape Hernia Abnormality of the dentition Cerebral cortical atrophy Macrocephaly Micropenis Cataract Cleft lip Recurrent urinary tract infections Long philtrum Wide mouth Abnormal cardiac septum morphology Pulmonic stenosis Broad nasal tip Hypoplasia of penis Malar flattening Patent ductus arteriosus Short nose Hypoglycemia Pain High, narrow palate Spasticity Low-set ears High palate Aciduria Anteverted nares Respiratory insufficiency Cognitive impairment Optic atrophy Downslanted palpebral fissures Failure to thrive Hypertelorism Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Diabetes mellitus Polyneuropathy Hepatomegaly Craniosynostosis Frontal bossing Protruding ear Hyperlordosis Abnormality of the kidney Short philtrum Intellectual disability, moderate Prominent nasal bridge Dandy-Walker malformation Intestinal malrotation Bifid uvula Ventriculomegaly Hypertrophic cardiomyopathy Abnormality of the skin Joint laxity Cleft upper lip Glaucoma Agenesis of corpus callosum Rocker bottom foot Telecanthus Hydronephrosis Coarse facial features Neurological speech impairment Clinodactyly of the 5th finger Constipation Recurrent respiratory infections Posteriorly rotated ears Hypothyroidism Stroke Thick vermilion border Cerebellar vermis hypoplasia Ankyloglossia Sleep apnea Congenital hip dislocation Vertebral segmentation defect Tracheomalacia Diastasis recti Proptosis Hydrocephalus Furrowed tongue Redundant skin Abnormality of the hand Bladder diverticulum Periorbital edema Arterial stenosis Short toe Colonic diverticula Congenital cataract Renovascular hypertension Tracheoesophageal fistula Polycystic ovaries Joint hyperflexibility Microdontia Smooth philtrum Oral cleft Abnormality of the skeletal system Everted lower lip vermilion Abnormality of the urinary system Macroglossia Vesicoureteral reflux Dental malocclusion Hypotelorism Abnormal dermatoglyphics Stridor Coarctation of aorta Cardiomegaly Renal hypoplasia Small nail Aplasia/Hypoplasia of the abdominal wall musculature Gingival overgrowth Hypogonadotrophic hypogonadism Thin vermilion border Mitral valve prolapse Camptodactyly Mandibular prognathia Strabismus Abnormality of the genital system Prolonged QT interval 3-Methylglutaconic aciduria Kyphoscoliosis Polyhydramnios Testicular dysgenesis Wide nose Narrow mouth Mitral regurgitation Narrow nose Delayed speech and language development Short neck Respiratory distress Full cheeks Adducted thumb Renal insufficiency Dehydration Kyphosis Sensorineural hearing impairment Hypertonia Ptosis Blepharophimosis Motor delay Midface retrusion Intellectual disability, mild Apnea Intrauterine growth retardation Anemia Attention deficit hyperactivity disorder Retrognathia Obesity Postnatal growth retardation Hepatoblastoma Embryonal neoplasm Talipes Cervical ribs Severe global developmental delay Pectus carinatum Slender ulna Abnormal pyramidal sign Brachycephaly Muscular hypotonia of the trunk Polymicrogyria Hypogonadism Severe short stature Encephalopathy Cerebral atrophy Microphthalmia Peripheral neuropathy Absent pulmonary artery Rectourethral fistula Posterior pharyngeal cleft Rectal atresia Dilatation Alopecia Peripheral axonal neuropathy Growth hormone deficiency Microcornea Epiphyseal dysplasia Misalignment of teeth Talipes valgus Abnormal toenail morphology Abnormality of the antihelix Abnormality of the distal phalanx of finger Thoracic scoliosis Ulnar deviation of finger Spastic diplegia Metatarsus adductus Bilateral cryptorchidism Osteopathia striata Broad fingertip Hypoplasia of the maxilla Intellectual disability, progressive Prominent antitragus Vascular ring Hypergonadotropic hypogonadism Clonus Meckel diverticulum Prominent nipples Short phalanx of finger Postnatal microcephaly Low posterior hairline Lumbar hyperlordosis Short metacarpal Knee flexion contracture Renal cyst Laryngeal cleft Coloboma Aspiration Posterior helix pit 2-3 finger syndactyly Narrow sacroiliac notch Pulmonary arterial hypertension Broad secondary alveolar ridge Nephroblastomatosis Birth length greater than 97th percentile Penoscrotal transposition Duplication of renal pelvis Iris coloboma Pulmonary hypoplasia Anal atresia Cough Six lumbar vertebrae Laryngomalacia Conductive hearing impairment Thin upper lip vermilion Prominent forehead Submucous cleft lip Rod-cone dystrophy Cleft lower lip Dystonia Dysphagia Cyst of the ductus choledochus Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Anosmia Recurrent upper respiratory tract infections Short lingual frenulum Widow's peak Hypoplasia of the epiglottis Hoarse cry Aplasia/Hypoplasia of the cerebellar vermis Cranial asymmetry Absent gallbladder Metopic synostosis Unilateral cleft lip Deeply set eye Broad toe Dilated fourth ventricle Cavum septum pellucidum Sagittal craniosynostosis Bicornuate uterus Concave nasal ridge Enlarged cisterna magna Short sacroiliac notch Abnormality of the ureter Oral-pharyngeal dysphagia Bifid scrotum Prominent occiput Weak cry Short 2nd finger Limb dystonia Penoscrotal hypospadias Abnormality of the respiratory system Anal stenosis Prominent metopic ridge Hiatus hernia Bilateral cleft lip Megalencephaly Bilateral cleft lip and palate Inspiratory stridor Bruising susceptibility Arthritis Arterial rupture Spontaneous pneumothorax Supernumerary nipple Bundle branch block Hydroureter Foot acroosteolysis Bilateral talipes equinovarus Uterine rupture Coronary artery aneurysm Uterine prolapse Large for gestational age Preauricular pit Arteriovenous fistulas of celiac and mesenteric vessels Hypoplastic lacrimal duct Cystocele Molluscoid pseudotumors Vertebral fusion Nephroblastoma Absent earlobe Enlarged kidney Arterial dissection Megaloblastic anemia Abnormal lung lobation Cigarette-paper scars Arteriovenous fistula Neuroblastoma Abnormality of digit Peripheral arteriovenous fistula Normal pressure hydrocephalus Pulmonary artery aneurysm Transposition of the great arteries Broad palm Gingival recession Cupped ear Premature delivery because of cervical insufficiency or membrane fragility Internal hemorrhage Facial asymmetry Clumsiness Omphalocele Toe syndactyly Abnormality of the ribs Congenital diaphragmatic hernia Postaxial hand polydactyly Overgrowth Camptodactyly of finger Short distal phalanx of finger Nail dysplasia Postaxial polydactyly Retinal detachment Short foot Webbed neck Finger syndactyly Polydactyly Relative macrocephaly Blindness Accelerated skeletal maturation Hemothorax Hypermobility of distal interphalangeal joints Neoplasm Narrow palpebral fissure Multicystic kidney dysplasia Preauricular skin tag Upslanted palpebral fissure Cerebral visual impairment Tall stature Renal dysplasia Splenomegaly Syndactyly Broad thumb Broad foot Abnormality of the gingiva Hip dislocation Aplasia/Hypoplasia of the eyebrow Abnormal intestine morphology Tinnitus Hypokalemia Aortic aneurysm Rheumatoid arthritis Melanocytic nevus Macule Chordee Narrow nasal bridge Telangiectasia of the skin Increased IgE level Abnormal heart valve morphology Fragile skin Abnormal joint morphology Osteolysis Short chin Scleroderma Migraine Vertigo Abnormality of skin pigmentation Joint hypermobility Flat face Abnormal bleeding Premature birth Blue sclerae Joint dislocation Osteoarthritis Thin skin Abnormality of the face Subcutaneous nodule Telangiectasia Pancreatic islet-cell hyperplasia Ureteral duplication Keratoconus Abnormal oral frenulum morphology Ocular pain Abnormal pupil morphology Abnormality of the helix Renal neoplasm Duodenal atresia Pneumothorax Premature loss of primary teeth Abnormality of hair texture Reduced consciousness/confusion Excessive wrinkled skin Ascending tubular aorta aneurysm Dermal translucency Gastrointestinal infarctions Polysplenia Low hanging columella Aplasia/Hypoplasia of the earlobes Osteolytic defects of the phalanges of the hand Hemoptysis Abnormal eyelash morphology Esophageal atresia Sprengel anomaly Premature loss of teeth Alopecia of scalp Dilatation of the cerebral artery Subarachnoid hemorrhage Transient ischemic attack Flared iliac wings Gingivitis Aortic dissection Periodontitis Abnormally large globe Hematochezia Varicose veins Abdominal situs inversus Supravalvular aortic stenosis Macrocytic anemia Hypsarrhythmia Otitis media Renal agenesis Tetralogy of Fallot Abnormality of the cardiovascular system Narrow forehead Abnormality of extrapyramidal motor function Type II diabetes mellitus Chest pain Ventricular hypertrophy Thick lower lip vermilion Myocardial infarction Hemiparesis Recurrent otitis media Open mouth Esotropia Hypodontia Involuntary movements Scarring Anxiety Proteinuria Developmental regression Autistic behavior Paralysis Joint stiffness Broad forehead Postural instability Small for gestational age Corneal opacity Nausea and vomiting Malabsorption Genu valgum Dysmetria Sleep disturbance Abnormal form of the vertebral bodies Nephrolithiasis Osteopenia Failure to thrive in infancy Abnormality of pelvic girdle bone morphology Incoordination Dysphonia Hypercalciuria Cholelithiasis Hypercalcemia Radioulnar synostosis Arnold-Chiari malformation Precocious puberty Portal hypertension Nephritis Chronic otitis media Obsessive-compulsive behavior Unilateral renal agenesis Reduced bone mineral density Schizophrenia Amblyopia Abnormality of dental enamel Narrow face Increased bone mineral density Increased body weight Pointed chin Hemivertebrae Nephrocalcinosis Abnormality of the fingernails Infantile muscular hypotonia Spina bifida occulta Cutis laxa Progressive hearing impairment Widely spaced teeth Bicuspid aortic valve Sacral dimple Ischemic stroke Arthralgia Macrotia Hypoplastic toenails Round face Facial palsy Dolichocephaly Falls Highly arched eyebrow Tapered finger Limitation of joint mobility Underdeveloped nasal alae Hyperhidrosis Cyanosis Generalized-onset seizure Interphalangeal joint contracture of finger Hypohidrosis Elbow flexion contracture Nasal speech Dyspnea Clinodactyly Keratitis Perineal hypospadias Muscle weakness Dilated cardiomyopathy Hepatic steatosis Decreased testicular size Hypokinesia Microcytic anemia Microvesicular hepatic steatosis Hypoplasia of the corpus callosum Nonprogressive cerebellar ataxia Glutaric aciduria Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia Fever Radial deviation of finger Overlapping toe High forehead Absent speech Dysarthria Myopia Tremor Gait disturbance Myopathy Behavioral abnormality Depressivity Visual impairment Delayed skeletal maturation Elevated serum creatine phosphokinase Cerebellar hypoplasia Osteoporosis Abdominal pain Autism Hyperreflexia Cold-induced sweating Disproportionate tall stature Central apnea Opisthotonus Limited elbow extension Acute kidney injury Episodic fever Malignant hyperthermia Trismus Large face Facial tics Velopharyngeal insufficiency Temperature instability Hypopnea Unexplained fevers Bilateral camptodactyly Hypernatremic dehydration Smooth tongue Abnormality of dental morphology Glucose intolerance Secondary amenorrhea Ophthalmoplegia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Abnormality of metabolism/homeostasis Myoclonus Abnormality of the eye Ambiguous genitalia Stellate iris Bradycardia Abnormal autonomic nervous system physiology Scrotal hypoplasia Cardiorespiratory arrest Hypothermia Tongue fasciculations Functional abnormality of male internal genitalia Dyssynergia Abnormal pattern of respiration Paroxysmal bursts of laughter Abnormal social behavior Flat cornea Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Abnormal carotid artery morphology Early onset of sexual maturation Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Ambiguous genitalia, male Bronchospasm Infantile hypercalcemia Bilateral sensorineural hearing impairment Lethargy Paresthesia Retinal degeneration Retinal dystrophy Neutropenia Amenorrhea Pancytopenia Visual loss Anorexia Situs inversus totalis Aminoaciduria Cone/cone-rod dystrophy Myelodysplasia Hyperglycemia Pallor Thrombocytopenia Laryngospasm Increased serum lactate Partial development of the penile shaft Dysplastic testes Staccato cry Acidosis Lactic acidosis Metabolic acidosis Oligohydramnios Headache Spontaneous abortion Severe muscular hypotonia Hyperammonemia Severe failure to thrive Severe lactic acidosis Nystagmus Diarrhea Abnormality of the gastric mucosa Food intolerance Polyuria Right ventricular hypertrophy Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Chronic constipation Tubulointerstitial nephritis Abnormality of the vasculature Large earlobe Abnormality of the neck Abnormality of the cerebral vasculature Enuresis Villous atrophy Dyslexia Patellar dislocation Pulmonary artery stenosis Abnormality of refraction Facial cleft Loss of consciousness Open bite Hallux valgus Premature graying of hair Celiac disease High hypermetropia Restlessness Poor coordination Insomnia Megalocornea Abnormality of lipid metabolism Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Soft skin Cerebral ischemia Gait imbalance Pelvic kidney Obsessive-compulsive trait Renal duplication Vascular tortuosity Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Nocturia Abnormal endocardium morphology Synostosis of joints Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Aplasia/Hypoplasia of the iris Thyroid hypoplasia Periorbital fullness Peptic ulcer Decreased plasma carnitine Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Abnormal renal morphology Lacrimation abnormality Cystic renal dysplasia Rectal prolapse Retinal vascular tortuosity Dysgraphia Abnormality of nervous system morphology Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Two carpal ossification centers present at birth


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Constipation, related diseases and genetic alterations Congestive heart failure and Posteriorly rotated ears, related diseases and genetic alterations Congestive heart failure and Asthma, related diseases and genetic alterations Myopathy and Sensory neuropathy, related diseases and genetic alterations