Ataxia, and Azoospermia

Diseases related with Ataxia and Azoospermia

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 32


Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males.

SPINOCEREBELLAR ATAXIA TYPE 32 Is also known as cerebellar ataxia with azoospermia and intellectual disability|sca32

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Cerebellar atrophy
  • Infertility
  • Progressive cerebellar ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 32

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

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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

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

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 WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46


Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46 Is also known as spg46

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Low match RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Azoospermia

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Azoospermia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Glucose intolerance Neoplasm Facial asymmetry Abnormality of the liver Hypogonadism Testicular atrophy Short stature Infertility Nystagmus Congestive heart failure Microcephaly Scoliosis Anemia Telangiectasia Leukemia Hypothyroidism Elevated hepatic transaminase Carcinoma Strabismus Cataract Tremor Dysarthria Pain Gait disturbance Difficulty walking Cerebellar atrophy Progressive cerebellar ataxia Sensorineural hearing impairment Seizures Cryptorchidism High palate Type II diabetes mellitus Renal agenesis Abnormal cerebellum morphology Delayed puberty Global developmental delay

Rare Symptoms - Less than 30% cases


Visual impairment Thrombocytopenia Abnormality of cardiovascular system morphology Headache Truncal ataxia Renal insufficiency Atrial septal defect Reduced sperm motility Fever Hyperreflexia Epicanthus Ptosis Patent ductus arteriosus Flexion contracture Abnormal facial shape Spasticity Micrognathia Failure to thrive Muscle weakness Hypertelorism Growth delay Abnormality of color vision Myopathy Dysphagia Hypospadias Chromosome breakage Abnormality of blood and blood-forming tissues Lymphoma Multiple cafe-au-lait spots Myeloid leukemia Pneumonia B-cell lymphoma Abnormality of the testis Bicornuate uterus Myelodysplasia Horseshoe kidney Abnormal vertebral morphology Abnormality of chromosome stability Pancytopenia Bruising susceptibility Proptosis Cerebral cortical atrophy Intention tremor Peripheral axonal neuropathy Abnormal cardiac septum morphology Postnatal growth retardation Abnormality of the kidney Skeletal muscle atrophy Spinal muscular atrophy Hypertrophic cardiomyopathy Anxiety Dementia Abnormal heart morphology Cafe-au-lait spot Insulin resistance Cleft palate Abdominal pain Abnormal renal morphology Hepatitis Amenorrhea Decreased testicular size Gynecomastia Impotence Male infertility Hepatic steatosis Unilateral renal agenesis Hepatocellular carcinoma Fatigue Pes cavus Recurrent infections Restrictive cardiomyopathy Hypogonadotrophic hypogonadism Arthritis Abnormality of eye movement Splenomegaly Cardiomyopathy Abnormality of the eye Hepatomegaly Severe vision loss Male hypogonadism Severe postnatal growth retardation Impaired vibration sensation at ankles Optic neuropathy Scotoma Diabetes insipidus Congenital sensorineural hearing impairment Aplasia/Hypoplasia of the pancreas Abnormality of exocrine pancreas physiology Schizophrenia Progressive hearing impairment Hallucinations Psychosis Bilateral sensorineural hearing impairment Decreased numbers of nephrons Epididymal cyst Gastrointestinal dysmotility Myoclonus Choreoathetosis Apraxia Decreased antibody level in blood Chorea Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Neurological speech impairment Distal muscle weakness Respiratory tract infection Gait ataxia Recurrent respiratory infections Abnormality of the upper urinary tract Immunodeficiency Dystonia Uterus didelphys Moderate hearing impairment Renal Fanconi syndrome Primary gonadal insufficiency Renal cortical cysts Multiple glomerular cysts Absent vas deferens Retinopathy Papillary cystadenoma of the epididymis Central diabetes insipidus Ophthalmoplegia Glaucoma Autistic behavior Leukocytosis Shield chest Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Neuroblastoma Abnormality of the vertebral column Cystic hygroma Neurofibromas Abnormality of the coagulation cascade Schwannoma Radial deviation of finger Cubitus valgus Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Plagiocephaly Lymphedema Synovitis Multiple lentigines Pallor Nasogastric tube feeding Abnormality of the pinna Abnormality of endocrine pancreas physiology Atretic vas deferens Autism Limb ataxia Visual loss Depressivity Respiratory insufficiency Optic atrophy Postductal coarctation of the aorta Preductal coarctation of the aorta Reduced factor XIII activity Asymmetry of the thorax Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Bronchiectasis Reduced tendon reflexes Sinusitis Lower limb muscle weakness Impaired vibratory sensation Chronic kidney disease Pyloric stenosis Spastic gait Lower limb spasticity Polydipsia Broad-based gait Hypoplasia of the uterus Glycosuria Urinary incontinence Dysmetria Paraplegia Ankle clonus Abnormality of the cerebral white matter Spastic paraplegia Abnormal pyramidal sign Mental deterioration Glomerulopathy Babinski sign Hyperuricemia Cerebral atrophy Kyphosis Hypoplasia of the corpus callosum Defective B cell differentiation Brisk reflexes Progressive spastic paraplegia Interosseus muscle atrophy Hirsutism Jerky ocular pursuit movements Abnormal sperm morphology Upper limb dysmetria Abnormal tendon morphology Sperm head anomaly Abnormality of the dentition Mandibular prognathia Jaundice Proteinuria Joint hyperflexibility Stage 5 chronic kidney disease Nephropathy Spastic paraparesis Renal cyst Renal hypoplasia Limb dysmetria Upper limb spasticity Spastic dysarthria Corpus callosum atrophy Head tremor Renal dysplasia Nephrolithiasis Impaired vibration sensation in the lower limbs Paraparesis Multicystic kidney dysplasia IgE deficiency Decreased/absent ankle reflexes Lymphopenia Combined immunodeficiency Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Prematurely aged appearance Gout Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Elevated serum creatinine Resting tremor Premature graying of hair Maturity-onset diabetes of the young Exocrine pancreatic insufficiency Athetosis Biliary tract abnormality Polycystic ovaries Slurred speech Breast carcinoma Cerebral palsy Knee clonus Ureteropelvic junction obstruction Oculomotor apraxia Recurrent pneumonia Pancreatic hypoplasia Abnormality of the hair Acute lymphoblastic leukemia Severe combined immunodeficiency Immunoglobulin IgG2 deficiency Neoplasm of the breast Progressive spinal muscular atrophy Non-Hodgkin lymphoma Left ventricular hypertrophy Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Chronic myelogenous leukemia Renal cell carcinoma Conjunctival telangiectasia Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Acute kidney injury Spinocerebellar tract degeneration Lymphoproliferative disorder Renal neoplasm Recurrent bronchitis Recurrent lower respiratory tract infections Proportionate short stature Amblyopia Abnormality of lipid metabolism Clumsiness Abnormality of the foot Choanal atresia Short palpebral fissure Oligohydramnios Sloping forehead Tetralogy of Fallot Hypopigmentation of the skin Neutropenia Abnormality of skin pigmentation Vertigo Astigmatism Anal atresia Toe syndactyly Aganglionic megacolon Dolichocephaly Hip dislocation Finger syndactyly Small for gestational age Irritability Pes planus Umbilical hernia Weight loss Upslanted palpebral fissure Severe short stature Clinodactyly of the 5th finger Abnormality of the genital system Recurrent urinary tract infections Hydrocephalus Tracheoesophageal fistula Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Acute myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Triphalangeal thumb Short thumb Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Type I diabetes mellitus Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Microphthalmia Respiratory distress Abnormality of the ulna Bilateral renal agenesis Osteoporosis Alopecia Arrhythmia Total anosmia Leydig cell insensitivity to gonadotropin Decreased circulating follicle stimulating hormone level Hypothalamic gonadotropin-releasing hormone deficiency Olfactory lobe agenesis Decreased circulating luteinizing hormone level Alobar holoprosencephaly Eunuchoid habitus Bimanual synkinesia Arthralgia Microphallus Hyposmia Sparse pubic hair Anodontia Bilateral cryptorchidism Anosmia Holoprosencephaly Hypotelorism Ichthyosis Oral cleft Cleft lip Micropenis Osteopenia Dilated cardiomyopathy Ventriculomegaly Neoplasm of the liver Abnormality of the skeletal system Frontal bossing Intrauterine growth retardation Elevated transferrin saturation Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Increased serum iron Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Acute hepatic failure Cirrhosis Increased reactive oxygen species production Increased serum ferritin Pericarditis Osteomalacia Arthropathy Abnormal joint morphology Pleural effusion Hepatic fibrosis Hyperpigmentation of the skin Cardiomegaly Ascites Hepatic failure Abnormal eyelid morphology Arteriovenous malformation Primary amenorrhea Motor neuron atrophy Ventricular septal defect Downslanted palpebral fissures Myopia Brachydactyly Depressed nasal bridge Feeding difficulties Low-set ears Proximal spinal muscular atrophy Laryngospasm Erectile abnormalities Exercise-induced muscle cramps Limb tremor Edema Tongue atrophy Decreased LDL cholesterol concentration Hyperlipoproteinemia Kinetic tremor Oligospermia Distal lower limb amyotrophy Bulbar signs Aspiration pneumonia Hand tremor Abnormality of the mouth Overweight Short neck Vomiting Muscle fibrillation Hypotrichosis Low posterior hairline Ventricular hypertrophy Coarctation of aorta Wide intermamillary distance Webbed neck Dental malocclusion Abnormal bleeding Abdominal distention Triangular face High, narrow palate Pulmonic stenosis Broad forehead Intellectual disability, mild Sparse hair Low-set, posteriorly rotated ears Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Posteriorly rotated ears Rod-cone dystrophy Constipation Clinodactyly Pectus excavatum Hernia Dilatation Axonal loss Bulbar palsy Abnormality of the upper limb Duplicated collecting system Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duodenal stenosis Abnormal carotid artery morphology Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormal localization of kidney Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Abnormality of the thumb Abnormality of the uterus Aplastic anemia Almond-shaped palpebral fissure Prolonged G2 phase of cell cycle Decreased fertility Limb muscle weakness Amyotrophic lateral sclerosis Calf muscle hypertrophy Limb-girdle muscular dystrophy Dysphonia Hyperlipidemia Aspiration Fasciculations Progressive muscle weakness Muscle cramps Neurodegeneration Sensory neuropathy Muscular dystrophy Anemic pallor Myalgia Proximal muscle weakness Elevated serum creatine phosphokinase Hyporeflexia Areflexia Muscular hypotonia Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Abnormality of alkaline phosphatase activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Nevus, related diseases and genetic alterations Feeding difficulties and Polymicrogyria, related diseases and genetic alterations Autoimmunity and Hyperlipidemia, related diseases and genetic alterations Myopathy and Pes cavus, related diseases and genetic alterations Nystagmus and Small nail, related diseases and genetic alterations Scoliosis and Intellectual disability, mild, related diseases and genetic alterations

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