Cataract, and Primary amenorrhea

Diseases related with Cataract and Primary amenorrhea

In the following list you will find some of the most common rare diseases related to Cataract and Primary amenorrhea that can help you solving undiagnosed cases.


Top matches:

Medium match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Medium match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

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Other less relevant matches:

Medium match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Medium match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low 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

Low match CORNELIA DE LANGE SYNDROME


Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Low match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Top 5 symptoms//phenotypes associated to Cataract and Primary amenorrhea

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Amenorrhea Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Primary amenorrhea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay High palate Nystagmus Micrognathia Cryptorchidism Cognitive impairment Microcephaly Strabismus Abnormal facial shape Peripheral neuropathy Diabetes mellitus Short neck Ataxia Sensorineural hearing impairment Ptosis Myalgia Cleft palate Visual impairment Hypospadias Left ventricular hypertrophy Secondary amenorrhea Sensory neuropathy Tremor Depressivity Intrauterine growth retardation Hypothyroidism Bicuspid aortic valve Gastroesophageal reflux Anxiety Cerebral cortical atrophy Skeletal muscle atrophy Myopathy Ventriculomegaly Congenital cataract Fever Proximal muscle weakness Muscle weakness Bipolar affective disorder Micropenis Depressed nasal bridge Posteriorly rotated ears Low posterior hairline Obesity Hernia Cardiomyopathy Pectus excavatum Myopia Edema Abnormality of cardiovascular system morphology Pulmonic stenosis Atrial septal defect Ventricular septal defect Generalized hypotonia Hypertelorism Low-set ears

Rare Symptoms - Less than 30% cases


Dysphagia Coronary artery atherosclerosis Pigmentary retinopathy Myelodysplasia Respiratory insufficiency Cerebellar atrophy Gait disturbance Severe global developmental delay Hypertonia Fatigue Failure to thrive Delayed speech and language development Rod-cone dystrophy High, narrow palate Hirsutism Neurological speech impairment Retinopathy Radial deviation of finger Glaucoma Generalized hirsutism Hypertension Truncal obesity Renal insufficiency Thin vermilion border Short foot Dysarthria Brachydactyly Arrhythmia External ophthalmoplegia Hyporeflexia Vesicoureteral reflux Subsarcolemmal accumulations of abnormally shaped mitochondria Muscular hypotonia Intellectual disability, severe Thrombocytopenia Patent ductus arteriosus Abnormal heart morphology Dementia Conductive hearing impairment Ventricular hypertrophy Low-set, posteriorly rotated ears Cytochrome C oxidase-negative muscle fibers Hypertrophic cardiomyopathy Multicystic kidney dysplasia Dilatation Splenomegaly Arnold-Chiari malformation Congestive heart failure Pain Apathy Obsessive-compulsive behavior Multiple mitochondrial DNA deletions Mitochondrial myopathy Elevated serum creatine phosphokinase Progressive muscle weakness Constipation Rigidity Ophthalmoplegia Limb muscle weakness Muscle cramps Parkinsonism Migraine Increased serum lactate Bradykinesia Exercise intolerance Progressive external ophthalmoplegia Postnatal growth retardation Ragged-red muscle fibers EMG: myopathic abnormalities Dysphonia Premature ovarian insufficiency Ophthalmoparesis Sensory axonal neuropathy Resting tremor Gonadal dysgenesis Leukemia Specific learning disability Feeding difficulties in infancy Peripheral demyelination Dysmetria Paresthesia Small hand Microcornea Chorea Decreased testicular size Long eyelashes Osteoporosis Hypergonadotropic hypogonadism Rhabdomyolysis Axonal loss Malignant hyperthermia Acute rhabdomyolysis Growth delay Neoplasm Kyphoscoliosis Cerebral atrophy Anteverted nares Iris coloboma Microphthalmia Midface retrusion Inguinal hernia Coloboma Muscular dystrophy Synophrys Delayed puberty Dental malocclusion Intellectual disability, mild Choanal atresia Hypogonadotrophic hypogonadism Anosmia Limb-girdle muscular dystrophy Hypoplastic labia majora Scoliosis Abnormality of the skeletal system Epicanthus Pes cavus Hydrocephalus Long philtrum Immunodeficiency Brachycephaly High forehead Clinodactyly Short nose Mood swings Patent foramen ovale Failure to thrive in infancy Abnormality of skeletal muscle fiber size Elevated alkaline phosphatase Insomnia Pterygium Increased intraabdominal fat Osteopoikilosis Poor suck Azoospermia Adipose tissue loss Plagiocephaly Thin skin Abnormality of complement system Limb-girdle muscle weakness Increased facial adipose tissue Lymphedema Amblyopia Clumsiness Sensory ataxia Sunken cheeks Coarctation of aorta Wide intermamillary distance Cubitus valgus Increased adipose tissue around the neck Eclampsia Drusen Schwannoma Synovitis Abnormality of the menstrual cycle Generalized lipodystrophy Absence of subcutaneous fat Loss of subcutaneous adipose tissue in limbs Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Arnold-Chiari type I malformation Abnormality of the coagulation cascade Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Dysmenorrhea Congenital generalized lipodystrophy Abnormality of color vision Leukocytosis Webbed neck Abnormal bleeding Abdominal distention Central nervous system degeneration Hypertriglyceridemia Unilateral primary pulmonary dysgenesis Perimembranous ventricular septal defect Platybasia Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Arteria lusoria Downslanted palpebral fissures Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Feeding difficulties Labial pseudohypertrophy Triangular face Loss of truncal subcutaneous adipose tissue Multiple lentigines Interrupted aortic arch Bruising susceptibility Facial asymmetry Hypotrichosis Hepatomegaly Broad forehead Abnormal cardiac septum morphology Sparse hair Papule Enlarged peripheral nerve Vomiting Polyhydramnios Proptosis Abdominal pain Narrow chest Infertility Hepatic steatosis Headache Round face Myelin tomacula Epidermal acanthosis Acute pancreatitis Abnormality of the thyroid gland Asymmetry of the thorax Premature birth Atresia of the external auditory canal Widely spaced teeth Hyperinsulinemia Bilateral single transverse palmar creases Hyperglycemia Low anterior hairline Congenital diaphragmatic hernia Hypoplasia of penis Hip dysplasia Intestinal malrotation Delayed eruption of teeth Pyloric stenosis Sleep disturbance Highly arched eyebrow Downturned corners of mouth Thick eyebrow Skeletal muscle hypertrophy Micromelia Talipes Toe syndactyly Reduced subcutaneous adipose tissue Spontaneous abortion Cellulitis Lipodystrophy Polycystic ovaries Aplasia/Hypoplasia of the skin Severe postnatal growth retardation Prenatal movement abnormality Phthisis bulbi Curly eyelashes Abnormally low-pitched voice Increased nuchal translucency Volvulus Abnormality of the uterus Short 1st metacarpal Acanthosis nigricans Abnormality of the ulna Areflexia Radioulnar synostosis Atherosclerosis Blepharitis Oligodactyly Aplasia of the uterus Hyperlipidemia Hypoplastic nipples Cutis marmorata Aplasia/Hypoplasia of the cerebellum Cranial nerve paralysis Proximal placement of thumb Elbow dislocation Lipoatrophy Glomerulopathy Optic disc hypoplasia Bilateral ptosis Progressive hearing impairment Mutism Myocardial infarction Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Angina pectoris Panuveitis Neurofibrosarcoma Xanthomatosis Peripheral arterial stenosis Ventricular fibrillation Decreased HDL cholesterol concentration Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Advanced eruption of teeth Insulin resistance Hypoplastic aortic arch Hyperlipoproteinemia Lymphangioma Pancreatitis Prominent superficial veins Reduced factor XIII activity Hyperuricemia Attention deficit hyperactivity disorder Abnormality of the nail Lower limb muscle weakness Short clavicles Insulin-resistant diabetes mellitus Abnormality of lipid metabolism Generalized muscle weakness Gliosis Brain atrophy Hip dislocation Memory impairment Maternal diabetes Nasogastric tube feeding Status epilepticus Joint stiffness Diplopia Macrotia Autism Clinodactyly of the 5th finger Delayed skeletal maturation Bradycardia Osteolytic defects of the phalanges of the hand Postductal coarctation of the aorta Preductal coarctation of the aorta Graves disease Muscle fiber necrosis Seborrheic dermatitis Acute leukemia Polydactyly Syndactyly Macrocephaly Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Abnormality of the kidney Severe intrauterine growth retardation Acute lymphoblastic leukemia Combined immunodeficiency Bifid scrotum Nephroblastoma Sarcoma Hyperpigmentation of the skin Intellectual disability, profound Ambiguous genitalia Oligohydramnios Dandy-Walker malformation Reduced visual acuity Paraplegia Renal cyst Clubbing Abnormality of the ovary Gait imbalance Undetectable electroretinogram Broad foot Poor coordination Foot polydactyly Nephronophthisis External genital hypoplasia Macular dystrophy Hypoplasia of the uterus Tricuspid regurgitation Situs inversus totalis Astigmatism Hepatic fibrosis Dental crowding Aganglionic megacolon Abnormality of the genital system Postaxial hand polydactyly Asthma Hypodontia Retinal dystrophy Postaxial polydactyly Stage 5 chronic kidney disease Retinal degeneration Generalized myoclonic seizures Wide nose Menstrual irregularities Hypoplasia of teeth Kyphosis Abnormality of the dentition Talipes equinovarus Motor delay Absent paranasal sinuses Aplasia of the nose Frontal encephalocele Aplasia/Hypoplasia involving the nose Abnormality of the sense of smell Lacrimal duct stenosis Diastema Lacrimation abnormality Hypoglycemia Hyposmia Agenesis of permanent teeth Preauricular pit Anophthalmia Reduced number of teeth Scrotal hypoplasia Encephalocele Broad nasal tip Hypoplasia of the maxilla Corneal opacity Cleft lip Babinski sign Camptodactyly of finger Generalized tonic-clonic seizures Motor polyneuropathy Small for gestational age Upslanted palpebral fissure Agenesis of corpus callosum Cerebellar hypoplasia Malar flattening Wide nasal bridge Peripheral hypomyelination Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Abnormality of peripheral nerve conduction Abnormal pyramidal sign Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Myoglobinuria Axonal degeneration Decreased motor nerve conduction velocity Postural tremor CNS hypomyelination Split hand Intention tremor Interphalangeal joint contracture of finger Polyneuropathy Vaginal atresia Tapetoretinal degeneration Juvenile rheumatoid arthritis Tetralogy of Fallot Abnormality of the hand Schizophrenia Holoprosencephaly Purpura Narrow palpebral fissure Hypocalcemia Spina bifida Hallucinations Renal dysplasia Open mouth Psychosis Renal agenesis Cholelithiasis Underdeveloped nasal alae Bifid uvula Hemolytic anemia Bulbous nose Anal atresia Autoimmunity Blepharophimosis Abnormality of the pinna Mental deterioration Aggressive behavior Arthritis Nasal speech Dysdiadochokinesis Retrognathia Posterior embryotoxon Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Anal stenosis Rheumatoid arthritis Autoimmune thrombocytopenia Submucous cleft hard palate Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Psoriasiform dermatitis Umbilical hernia Hyperactivity Microphallus Peripheral axonal neuropathy Easy fatigability Goiter Ventricular arrhythmia Sensorimotor neuropathy Cerebral visual impairment Frequent falls Palpitations Atrial fibrillation Abnormality of extrapyramidal motor function Coma Lactic acidosis Abnormality of eye movement Increased variability in muscle fiber diameter Lethargy Dilated cardiomyopathy Abnormality of the liver Facial palsy Elevated hepatic transaminase Acidosis Gait ataxia Septate vagina Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Abnormality of mitochondrial metabolism Glucose intolerance Absent speech Cogwheel rigidity Recurrent infections Behavioral abnormality Hypoplasia of the corpus callosum Anemia Focal white matter lesions Quadriceps muscle weakness Progressive ophthalmoplegia Impaired distal proprioception Nocturia Impaired distal vibration sensation Gastroparesis Parkinsonism with favorable response to dopaminergic medication Difficulty climbing stairs Testicular atrophy Abnormality of the mitochondrion Skeletal myopathy Absent Achilles reflex Reduced ejection fraction Shoulder girdle muscle weakness Hypomimic face Facial diplegia Ketosis Hyperthyroidism Exertional dyspnea Hypokinesia Increased intramuscular fat



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