Rod-cone dystrophy, and Infertility

Diseases related with Rod-cone dystrophy and Infertility

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Infertility that can help you solving undiagnosed cases.


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High match PRIMARY CILIARY DYSKINESIA-RETINITIS PIGMENTOSA SYNDROME


Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Renal insufficiency
  • Recurrent respiratory infections
  • Rod-cone dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA-RETINITIS PIGMENTOSA SYNDROME

High match PRIMARY CILIARY DYSKINESIA


Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

Related symptoms:

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA

High match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

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High match SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A


The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997).SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic ParaplegiaIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (OMIM ), caused by mutation in the SPAST gene (OMIM ) on 2p22; SPG6 (OMIM ), caused by mutation in the NIPA1 gene (OMIM ) on 15q11; SPG8 (OMIM ), caused by mutation in the KIAA0196 gene (OMIM ) on 8q24; SPG9A (OMIM ), caused by mutation in the ALDH18A1 gene (OMIM ) on 10q24; SPG10 (OMIM ), caused by mutation in the KIF5A gene (OMIM ) on 12q13; SPG12 (OMIM ), caused by mutation in the RTN2 gene (OMIM ) on 19q13; SPG13 (OMIM ), caused by mutation in the SSPD1 gene (OMIM ) on 2q33.1; SPG31 (OMIM ), caused by mutation in the REEP1 gene (OMIM ) on 2p11; SPG33 (OMIM ), caused by mutation in the ZFYVE27 gene (OMIM ) on 10q24; SPG72 (OMIM ), caused by mutation in the REEP2 gene (OMIM ) on 5q31; and SPG73 (OMIM ), caused by mutation in the CPT1C gene (OMIM ) on 19q13.Autosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19 ), 1p31-p21 (SPG29 ), 12q23-q24 (SPG36 ), 8p21.1-q13.3 (SPG37 ), 4p16-p15 (SPG38 ), and 11p14.1-p11.2 (SPG41 ).

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Is also known as spg3|fsp1|strumpell disease|familial spastic paraplegia, autosomal dominant, 1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Medium match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Medium match USHER SYNDROME TYPE 1


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Medium match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match BARDET-BIEDL SYNDROME 7; BBS7


BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 7; BBS7

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Infertility

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Infertility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cataract Cognitive impairment Blindness Scoliosis Motor delay Peripheral neuropathy Global developmental delay Pneumonia Nyctalopia Constipation Pain Hypogonadism Sinusitis Congestive heart failure Seizures Postnatal growth retardation Growth delay Abdominal pain Bronchiectasis Recurrent otitis media Otitis media Nystagmus Poor coordination Depressivity Splenomegaly Vomiting Visual impairment Neoplasm Respiratory tract infection Recurrent respiratory infections Renal insufficiency Short neck Chronic sinusitis Abdominal distention Clumsiness Peripheral visual field loss Obesity Visual loss Fatigue Retinopathy Respiratory distress Bronchitis Headache Posterior subcapsular cataract Cough Intellectual disability, mild Subcapsular cataract

Rare Symptoms - Less than 30% cases


Restrictive cardiomyopathy Impaired vibratory sensation Increased body weight Failure to thrive Behavioral abnormality Decreased fertility Abnormality of the dentition Decreased liver function Hypertelorism Polyuria Polyphagia Alopecia Urinary incontinence Alopecia of scalp Microcephaly Urinary urgency Hepatosplenomegaly Hepatomegaly Chills Dilatation Clinodactyly Patent ductus arteriosus Cardiomyopathy Proptosis Gastroesophageal reflux Feeding difficulties Kyphoscoliosis Strabismus Sparse hair Leukemia Hypotrichosis Pulmonic stenosis Arteriosclerosis Fever Left ventricular hypertrophy Leukocytosis Recurrent pneumonia Elevated alkaline phosphatase Optic disc pallor Myelodysplasia Gastrointestinal hemorrhage Retinal dystrophy Nausea Lymphadenopathy Pallor Myalgia Flexion contracture Hyperhidrosis Delayed speech and language development Hypertension Diabetes mellitus Lipodystrophy Hypergonadotropic hypogonadism Conductive hearing impairment Sensory neuropathy Peripheral axonal neuropathy Progressive visual loss Delayed puberty Decreased testicular size Ophthalmoplegia Abnormality of the kidney Chronic otitis media Abnormality of the nervous system Osteoporosis Amenorrhea Pes cavus Hyporeflexia High palate Ptosis Spasticity Abnormal facial shape Polydactyly Retinal degeneration Male infertility Nephropathy Atherosclerosis Polyneuropathy Macular degeneration Primary amenorrhea Type II diabetes mellitus Confusion Hyperkeratosis Dyskinesia Ciliary dyskinesia Abnormality of retinal pigmentation Retinal atrophy Recurrent bronchitis Polydipsia Gonadal dysgenesis Secondary amenorrhea Insulin resistance Aplasia/Hypoplasia of the cerebellum High-frequency hearing impairment Severe sensorineural hearing impairment Immotile cilia Vertical nystagmus Decreased HDL cholesterol concentration Hepatic encephalopathy Endocardial fibroelastosis Abnormal renal morphology Multinodular goiter Menstrual irregularities Anorexia Abnormality of female external genitalia Nephrocalcinosis Retinal pigment epithelial atrophy Absence seizures Ovarian cyst Esophageal varix Accelerated skeletal maturation Short toe Gynecomastia Chronic obstructive pulmonary disease Hematemesis Disinhibition Frontal balding Tubulointerstitial fibrosis Urinary retention Chronic fatigue Horizontal nystagmus Pyelonephritis Elevated C-reactive protein level Increased total bilirubin Bull's eye maculopathy Acute pancreatitis Hepatic fibrosis Hyperpigmentation of the skin Testicular atrophy Achromatopsia Generalized hirsutism Abnormal left ventricle morphology Hypogonadotrophic hypogonadism Abnormal renal physiology Urethral stenosis Poor fine motor coordination Elevated serum creatinine Myocardial fibrosis Chorioretinal atrophy Thoracic scoliosis Pericarditis Increased number of teeth Hyperuricemia Glycosuria Glomerulopathy Progressive sensorineural hearing impairment Nephritis Agenesis of permanent teeth Short finger Obsessive-compulsive behavior Pericardial effusion Hypoventilation First degree atrioventricular block Abnormal retinal morphology Constriction of peripheral visual field Truncal obesity Acne Hydroureter Hyperostosis Pulmonary fibrosis Hyperglycemia Emphysema Diabetes insipidus Glucose intolerance Autoimmune thrombocytopenia Insulin-resistant diabetes mellitus Acanthosis nigricans Right ventricular hypertrophy Hyperlipidemia Male hypogonadism Oligospermia Myocarditis Tubular atrophy Pancreatitis Hypercholesterolemia Acute hepatic failure Tachypnea Cone/cone-rod dystrophy Goiter Attenuation of retinal blood vessels Portal hypertension Polycystic ovaries Abnormality of the hand Cholelithiasis Precocious puberty Hyperinsulinemia Tubulointerstitial nephritis Pendular nystagmus Gingivitis Ketoacidosis Broad foot Oligomenorrhea Hyperventilation Melena EEG with occipital slowing Abnormality of the optic disc Type I diabetes mellitus Telangiectasia of the skin Aplasia/Hypoplasia of the skin Lipoatrophy Premature graying of hair High pitched voice Squamous cell carcinoma Rocker bottom foot Abnormality of the thorax Abnormality of the voice Dermal atrophy Sarcoma Laryngomalacia Breast carcinoma Melanoma Spontaneous abortion Myeloid leukemia Convex nasal ridge Carcinoma Joint stiffness Small hand Hypopigmentation of the skin Coma Chest pain Myocardial infarction Hoarse voice Sparse scalp hair Decreased body weight Skin ulcer Abnormality of the hair Narrow face Increased bone mineral density Scleroderma Ovarian neoplasm Skeletal muscle atrophy Enlarged joints Postaxial polydactyly Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Poliosis Abnormal hair whorl Soft tissue sarcoma Chorioretinitis Cutaneous melanoma Narrow nasal ridge Thyroid carcinoma Prematurely aged appearance Osteosarcoma Premature loss of teeth Neoplasm of the lung Pulmonary artery stenosis Progeroid facial appearance Meningioma Renal neoplasm Abnormality of the cerebral vasculature White forelock Peripheral arterial stenosis Lack of skin elasticity Chondrocalcinosis Pili torti Abnormality of the testis Slender build Micropenis Absent vestibular function Decreased glomerular filtration rate Hypoplastic male external genitalia Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Abnormality of the pituitary gland Thickened ears Abnormal chorioretinal morphology Abnormal spermatogenesis Chronic infection Abnormality of the urethra Lumbar scoliosis Abnormality of dental color Epigastric pain Urethral stricture Urethral obstruction Impaired temperature sensation Female hypogonadism Abnormal muscle tone Albuminuria Renovascular hypertension Squared iliac bones Granular macular appearance Dilatation of the bladder Abnormal cochlea morphology Abnormality of dental enamel Vestibular hypofunction Subcortical cerebral atrophy Hemianopia Tapetoretinal degeneration Undetectable electroretinogram Iris hypopigmentation Severe hearing impairment High hypermetropia Scotoma Vestibular dysfunction Abnormal electroretinogram Schizophrenia Mutism Progressive hearing impairment Hallucinations Unilateral breast hypoplasia Abnormality of prothrombin Glue ear Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology Precocious puberty in females Thickened skin Abnormality of renal calyx morphology Psychosis Localized hirsutism Vitreous haze Abnormality of the femoral head Cerebral cortical atrophy Anxiety Abnormality of the eye Chronic diarrhea Loose anagen hair Recurrent urinary tract infections Optic neuropathy Erythema Arthritis Arthralgia Diarrhea Frontal bossing Generalized hypotonia Long-tract signs Degeneration of the lateral corticospinal tracts Neurogenic bladder Distal lower limb amyotrophy Taurodontia Urinary bladder sphincter dysfunction Impaired vibration sensation in the lower limbs Papule Progressive spasticity Axonal degeneration Postural tremor Hand polydactyly Growth abnormality Cerebral palsy Spastic paraparesis Paraparesis Clonus Spastic gait Lower limb spasticity Spastic tetraplegia Tetraplegia Skin rash Vertigo Lower limb muscle weakness Elevated erythrocyte sedimentation rate Neutrophilia Erysipelas Porokeratosis Neuritis Increased IgA level Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Uveitis Episodic fever Amyloidosis Colitis Hypermelanotic macule Sepsis Intestinal obstruction Apathy Urticaria Purpura Conjunctivitis Vasculitis Long eyelashes Nephrotic syndrome Eczema Dehydration Aciduria Migraine Limitation of joint mobility Ichthyosis Paraplegia Cervical lymphadenopathy Recurrent sinusitis Crackles Absent frontal sinuses Nasal polyposis Chronic rhinitis Abnormal cornea morphology Chronic bronchitis Abdominal situs inversus Nasal obstruction Communicating hydrocephalus Duodenal atresia Asplenia Polysplenia Dextrocardia Dysarthria Neonatal respiratory distress Anosmia Situs inversus totalis Abnormal lung morphology Recurrent infections Hydrocephalus Ventriculomegaly Recurrent Haemophilus influenzae infections Recurrent ear infections Hypoxemia Atelectasis Recurrent lower respiratory tract infections Recurrent upper respiratory tract infections Abnormal respiratory motile cilium morphology Talipes equinovarus Limb muscle weakness Progressive peripheral neuropathy Abnormality of the cerebral white matter Spastic paraplegia Paralysis Dementia Babinski sign Syndactyly Hypoplasia of the corpus callosum Gait disturbance Tremor Hyperreflexia Muscle weakness Internuclear ophthalmoplegia Limited extraocular movements Titubation Cerebellar atrophy Decreased serum testosterone level Amelogenesis imperfecta Increased circulating gonadotropin level Spastic diplegia Hammertoe Bilateral ptosis Hyperkinesis Sensorimotor neuropathy Dysmetria Mental deterioration Gait ataxia Cerebellar hypoplasia Areflexia Optic neuritis Serositis Involuntary movements Respiratory insufficiency Photophobia Jaundice Pes planus Dyspnea Hypothyroidism Autism Weight loss Respiratory failure Myoclonus Encephalopathy Kyphosis Dystonia Optic atrophy Elevated hepatic transaminase Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Deeply set eye Proteinuria Optic disc hypoplasia Sleep disturbance Hypertriglyceridemia Pulmonary arterial hypertension Epidermal acanthosis Cardiomegaly Hepatitis Pigmentary retinopathy Cyanosis Specific learning disability Growth hormone deficiency Round face Vesicoureteral reflux Asthma Ascites Hepatic steatosis Irritability Hirsutism Hepatic failure Tachycardia Cirrhosis Stage 5 chronic kidney disease Dry skin Carious teeth Hypermetropia Generalized tonic-clonic seizures Dilated cardiomyopathy Scarring Abnormality of the liver Autistic behavior Lymphangioma Asymmetry of the thorax Pharyngitis Pectus excavatum Dental malocclusion Abnormal bleeding Triangular face High, narrow palate Bruising susceptibility Facial asymmetry Broad forehead Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Polyhydramnios Posteriorly rotated ears Abnormal heart morphology Hernia Wide intermamillary distance Thrombocytopenia Abnormality of cardiovascular system morphology Edema Atrial septal defect Ventricular septal defect Downslanted palpebral fissures Myopia Brachydactyly Epicanthus Depressed nasal bridge Low-set ears Cryptorchidism Micrognathia Webbed neck Coarctation of aorta Multiple lentigines Abnormality of color vision Schwannoma Synovitis Shield chest Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Cystic hygroma Neurofibromas Abnormality of the coagulation cascade Ventricular hypertrophy Radial deviation of finger Cubitus valgus Patent foramen ovale Failure to thrive in infancy Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Azoospermia Plagiocephaly Lymphedema Amblyopia Low posterior hairline External genital hypoplasia



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