Cataract, and Pancytopenia

Diseases related with Cataract and Pancytopenia

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


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Low match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Low match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

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Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Low match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match FANCONI ANEMIA


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

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Top 5 symptoms//phenotypes associated to Cataract and Pancytopenia

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Thrombocytopenia

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency Short stature Visual impairment Sensorineural hearing impairment Scoliosis Microcephaly Generalized hypotonia Abnormality of skin pigmentation Strabismus Leukemia Muscle weakness Optic atrophy Failure to thrive Nystagmus Congestive heart failure Aplastic anemia Respiratory distress Abnormal facial shape Abnormality of the dentition Intellectual disability, severe Proteinuria Hepatomegaly Hepatic failure Hypertrophic cardiomyopathy Hyperpigmentation of the skin Retinal degeneration Hydrocephalus Hip dislocation Malabsorption Diabetes mellitus Arthritis Neoplasm Splenomegaly Weight loss Immunodeficiency Hepatosplenomegaly Cerebellar hypoplasia Ventriculomegaly Fatigue Alopecia Intrauterine growth retardation Skeletal muscle atrophy Hyperreflexia Motor delay Hypopigmentation of the skin Abnormality of the kidney Bone marrow hypocellularity Chromosome breakage Hypothyroidism Leukopenia Malar flattening Epicanthus Telangiectasia Pulmonary fibrosis Cryptorchidism Micrognathia Abnormality of the skeletal system Horseshoe kidney Epiphora Umbilical hernia Myelodysplasia Dysarthria Hypertelorism Ptosis

Rare Symptoms - Less than 30% cases


Patellar dislocation Absent radius Memory impairment Confusion Oral leukoplakia Specific learning disability Ridged nail Eosinophilia Testicular atrophy Hypergonadotropic hypogonadism Macrotia Neutropenia Hemolytic anemia Headache Mental deterioration Progressive neurologic deterioration Spina bifida Glaucoma Reticular hyperpigmentation Abnormality of the testis Carious teeth Muscular hypotonia Progressive cerebellar ataxia Cerebral calcification Hypopigmented skin patches Depressivity Dermal atrophy Lymphoma Cerebral cortical atrophy Gait ataxia Cirrhosis Tracheoesophageal fistula Nail dystrophy Frontal bossing Osteoporosis Hyperhidrosis Recurrent respiratory infections Premature graying of hair Abnormality of coagulation Meckel diverticulum Aseptic necrosis Premature loss of teeth Blepharitis Abnormal intestine morphology Increased antibody level in blood Aciduria Anorexia Edema Atrial septal defect Clinodactyly of the 5th finger Carcinoma Postnatal growth retardation Small for gestational age Sepsis Ragged-red muscle fibers Gliosis Psychosis Bilateral sensorineural hearing impairment Pigmentary retinopathy Vertigo Unsteady gait Abnormal heart morphology Retinopathy Oligohydramnios Glomerulopathy Squamous cell carcinoma Low-set ears Myopia Hernia Acute myeloid leukemia Myeloid leukemia Dental malocclusion Cleft palate Arrhythmia Depressed nasal bridge Telangiectasia of the skin Talipes equinovarus Hypertension Cardiomyopathy Myopathy Hypospadias Type II diabetes mellitus Abnormal cardiac septum morphology Muscular hypotonia of the trunk Recurrent urinary tract infections Decreased antibody level in blood Pain Finger syndactyly Nephropathy Acidosis Hypogonadism Metabolic acidosis Urethral stenosis Cerebral atrophy Intellectual disability, mild Cerebellar atrophy Gait disturbance Tetralogy of Fallot Cognitive impairment Spasticity Abnormality of the foot Fever Genu valgum Behavioral abnormality Delayed myelination Kyphosis Short neck Optic disc pallor Otitis media Abnormality of the cerebral white matter Hip dysplasia Peripheral demyelination Midface retrusion Neurological speech impairment Depressed nasal ridge Macrocephaly Delayed speech and language development Recurrent infections Corneal opacity Areflexia Babinski sign Mandibular prognathia Kyphoscoliosis Hypermetropia Osteopenia Prominent forehead Skeletal dysplasia Coarse facial features Anxiety Delayed skeletal maturation Macroglossia Respiratory tract infection Inguinal hernia Pectus carinatum Broad forehead Thick eyebrow Dysmetria Highly arched eyebrow Neurodegeneration Cow milk allergy Nevus flammeus Axial malrotation of the kidney Intestinal malrotation Hypoplasia of the radius Genu varum Adducted thumb Hemangioma Coxa valga Short phalanx of finger Left ventricular hypertrophy Broad thumb Cerebellar vermis hypoplasia Blue sclerae Ventricular hypertrophy Coarctation of aorta Focal-onset seizure Severe global developmental delay Focal impaired awareness seizure Cleft lip Brachycephaly Agenesis of corpus callosum Pneumonia Anteverted nares Ventricular septal defect Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Intracranial hemorrhage Megalocornea Shoulder muscle hypoplasia Generalized tonic-clonic seizures with focal onset Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Nevus flammeus of the forehead Aplasia/hypoplasia of the humerus Edema of the dorsum of hands Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Cervical ribs Lateral clavicle hook Bowing of the long bones Phocomelia Carpal bone hypoplasia Fibular aplasia Pancreatic cysts Cavum septum pellucidum Aplasia of the uterus Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Allergy Delayed CNS myelination Duodenal atresia Cardiorespiratory arrest Carpal synostosis Hypertrichosis Generalized abnormality of skin Tall stature Abnormality of blood and blood-forming tissues Glucose intolerance Hypoplasia of the ulna Ectopic kidney Hydroureter Absent thumb Multiple cafe-au-lait spots Aplasia/Hypoplasia of the radius Hyperinsulinemia Irregular hyperpigmentation External ear malformation Hearing abnormality Abnormal eyelid morphology Abnormality of the ulna Arteriovenous malformation Triphalangeal thumb Abnormality of the urinary system Abnormality of the upper limb Cafe-au-lait spot Renal agenesis Sloping forehead Short palpebral fissure Choanal atresia Abnormality of the genital system Aganglionic megacolon Short thumb Abnormality of vision Insulin resistance Abnormal vertebral morphology Type I diabetes mellitus Azoospermia Cranial nerve paralysis Renal hypoplasia/aplasia Reduced bone mineral density B-cell lymphoma Abnormality of the uterus Astigmatism Abnormal carotid artery morphology Decreased fertility in males Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Compensated hypothyroidism Almond-shaped palpebral fissure Prolonged G2 phase of cell cycle Partial duplication of thumb phalanx Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Clubbing of toes Complete duplication of thumb phalanx Abnormality of the thumb Abnormal localization of kidney Bicornuate uterus Abnormality of femur morphology Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal renal morphology Abnormality of chromosome stability Aplasia/Hypoplasia of the iris Reticulocytopenia Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Duodenal stenosis Duplicated collecting system Low-grade fever Bruising susceptibility Anal atresia Amblyopia Dysostosis multiplex Thickened calvaria Bronchitis Limb dystonia Severe sensorineural hearing impairment Delusions Impaired smooth pursuit Hydrocele testis Femoral bowing Reduced ejection fraction Abnormality of the helix Spondylolisthesis Craniofacial hyperostosis Abnormality of the rib cage Abnormal cornea morphology Abnormality of the sternum Neurodevelopmental delay Abnormal echocardiogram Recurrent bacterial infections Gingival overgrowth Limb ataxia Hallucinations Spastic gait Low anterior hairline Narrow palate Widely spaced teeth Bowel incontinence Increased intracranial pressure Prominent supraorbital ridges Chronic otitis media Heart murmur Flat occiput Bowing of the legs Open bite Synovitis Thoracolumbar kyphosis Facial asymmetry Severe short stature Flattened moderately deformed vertebrae Spinocerebellar tract disease in lower limbs High palate Microphthalmia Abnormality of cardiovascular system morphology Patent ductus arteriosus Upslanted palpebral fissure Progressive joint destruction Proptosis Pes planus Abnormality of the eye Irritability Abnormality of the liver Dolichocephaly Toe syndactyly Synovial hypertrophy Abnormality of dental structure Vacuolated lymphocytes Oligosacchariduria Cranial hyperostosis Abnormality of the gingiva Long ear Retinal thinning Cerebral dysmyelination Synostosis of joints Spondylolysis Antineutrophil antibody positivity Increased vertebral height Increased hepatic glycogen content Pancreatic adenocarcinoma Decreased pulmonary function Hypoplastic inferior ilia Abnormality of the ilium Abnormality of joint mobility Abnormal leukocyte morphology Hypothermia Lacrimal duct stenosis Neurofibromas Abnormality of neutrophils Squamous cell carcinoma of the skin Abnormality of the pharynx Cellular immunodeficiency Abnormality of female internal genitalia White hair Periodontitis Taurodontia Abnormal eyebrow morphology Neoplasm of the pancreas Abnormal eyelash morphology Aplasia/Hypoplasia of the skin Skin vesicle Macule Hypermelanotic macule Aplastic/hypoplastic toenail Neoplasm of the skin Abnormality of the fingernails Lymphopenia Skin ulcer Hepatic fibrosis Abnormal blistering of the skin Nail dysplasia Hypoplasia of the maxilla Hypodontia Recurrent fractures Palmoplantar keratoderma Sparse hair Hyperkeratosis Crescentic glomerulonephritis Interstitial pneumonitis Porokeratosis Exercise-induced myoglobinuria Lethargy Atherosclerosis Abnormality of retinal pigmentation Broad-based gait Pulmonary arterial hypertension Abnormality of extrapyramidal motor function Urinary incontinence Hepatic steatosis Hematuria Joint hypermobility Long face Paresthesia Smooth philtrum Lower limb muscle weakness Congenital cataract Feeding difficulties in infancy Rough bone trabeculation Difficulty walking High forehead Reduced visual acuity Dementia Respiratory insufficiency Tremor Feeding difficulties Absent lacrimal punctum Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Nail pits Rapid neurologic deterioration Recurrent myoglobinuria Hemiplegia Congenital sensorineural hearing impairment Abnormal retinal morphology Macular dystrophy Vestibular dysfunction Bundle branch block Hyperglycemia Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field External ophthalmoplegia Ophthalmoplegia Myalgia Constipation Chordee Aplasia/Hypoplasia of the nipples Hypoplastic nipples Bifid scrotum Retinal atrophy Abnormal dermatoglyphics Renal dysplasia Thick lower lip vermilion Renal hypoplasia Hypoplasia of penis Wide intermamillary distance Everted lower lip vermilion Stage 5 chronic kidney disease Blepharophimosis Wide mouth Intellectual disability, moderate Telecanthus Micropenis Wide nasal bridge Progressive sensorineural hearing impairment Abnormality of lipid metabolism Glutaric aciduria Status epilepticus Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Myoglobinuria Generalized amyotrophy Focal segmental glomerulosclerosis Ophthalmoparesis Glomerulonephritis Glomerulosclerosis Failure to thrive in infancy Hyperextensible skin Oculomotor apraxia Exercise intolerance Progressive muscle weakness Apraxia Left bundle branch block Nephrotic syndrome Muscle cramps Postural instability Lactic acidosis Joint hyperflexibility Stroke Abnormal pyramidal sign Respiratory failure Myoclonus Rod-cone dystrophy Elevated serum creatine phosphokinase Visual loss Encephalopathy Abnormal chorioretinal morphology Slurred speech Ectopia lentis Keratoconjunctivitis Cystoid macular edema Vitritis Vitreous floaters Abnormal conjunctiva morphology Iridocyclitis Abnormal salivary gland morphology Anterior uveitis Dacryocystitis Chorioretinitis Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Generalized lymphadenopathy Erythema nodosum Abnormality of the cerebrospinal fluid Chylothorax Abnormality of skin morphology Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Skin nodule Bone cyst Immune dysregulation Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Increased CSF protein Heart block Abnormal reproductive system morphology Posterior vitreous detachment Uveitis Decreased testicular size Esophageal stricture Excessive wrinkled skin Hodgkin lymphoma Generalized hyperpigmentation Restrictive ventilatory defect Flared metaphysis Neonatal respiratory distress Pterygium Anosmia Sparse eyelashes Conjunctivitis Truncal ataxia Sparse scalp hair Decreased fetal movement Gastrointestinal hemorrhage Enlargement of parotid gland Hyporeflexia Hypertonia Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Joint swelling Optic neuropathy Apathy Urogenital fistula Dyspnea Blindness Peripheral neuropathy Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Delirium Proximal muscle weakness Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Photophobia Facial palsy Hemoptysis Hypercalciuria Keratoconjunctivitis sicca Hyperuricemia Hyperthyroidism Abnormality of the musculature Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Chorioretinal atrophy Blurred vision Emphysema Diabetes insipidus Inflammation of the large intestine Pleural effusion Portal hypertension Hypercalcemia Ventricular tachycardia Erythema Syncope Scarring Cough Papule Lymphadenopathy Chest pain Sudden cardiac death Palpitations Osteolysis Abnormal lung morphology Subcutaneous nodule Nephrolithiasis Bronchiectasis Decreased liver function Nephrocalcinosis Abnormality of the preputium



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