Intellectual disability, severe, and Azoospermia

Diseases related with Intellectual disability, severe and Azoospermia

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

Top matches:

Medium match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Related symptoms:

  • Intellectual disability
  • Hypertension
  • Congestive heart failure
  • Obesity
  • Diabetes mellitus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO CEP19 DEFICIENCY

Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM ).For a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Intellectual disability, mild
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 10; POF10

Other less relevant matches:

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Medium match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.

45,X/46,XY MIXED GONADAL DYSGENESIS Is also known as 45,x0/46,xy mgd|45,x0/46,xy mixed gonadal dysgenesis|45,x/46,xy mgd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about 45,X/46,XY MIXED GONADAL DYSGENESIS

Medium match BJÖRNSTAD SYNDROME

Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.

BJÖRNSTAD SYNDROME Is also known as deafness-pili torti-hypogonadism syndrome|pili torti and nerve deafness|ptd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Intellectual disability, severe


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BJÖRNSTAD SYNDROME

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Azoospermia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Azoospermia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Growth delay Hearing impairment Microcephaly High palate Nystagmus Intellectual disability, mild Diabetes mellitus Delayed puberty Congestive heart failure Infertility Hypothyroidism Sensorineural hearing impairment Cardiomyopathy Obesity Male infertility Depressed nasal bridge Anemia Epicanthus Myopia Global developmental delay Abnormal facial shape

Rare Symptoms - Less than 30% cases

Abnormality of the dentition Strabismus Hypoplasia of penis Webbed neck Abnormality of the kidney Pectus excavatum Abnormality of cardiovascular system morphology Scoliosis Patent ductus arteriosus Splenomegaly Atrial septal defect Leukemia Feeding difficulties Hypertension Multiple lentigines Hypertelorism Type II diabetes mellitus Lymphoma Talipes equinovarus Brachydactyly Decreased testicular size Amenorrhea Primary amenorrhea High pitched voice Low-set ears Wide intermamillary distance Low-set, posteriorly rotated ears Coarctation of aorta Neoplasm Delayed skeletal maturation Recurrent infections Cognitive impairment Low posterior hairline Fever Short neck Pneumonia Vomiting Intrauterine growth retardation Micropenis Headache Immunodeficiency Diarrhea Coarse hair Hypospadias Cubitus valgus Postnatal growth retardation Sacral dimple Bicuspid aortic valve Thrombocytopenia Hypotrichosis Epiphyseal dysplasia Hyperlipidemia Reduced bone mineral density Glomerulosclerosis Encephalitis Chronic kidney disease Glomerulonephritis Emphysema Nephritis Melanocytic nevus Spondyloepiphyseal dysplasia Focal segmental glomerulosclerosis Ovoid vertebral bodies Combined immunodeficiency Thoracic kyphosis Transient ischemic attack Hypermelanotic macule Steatorrhea Opacification of the corneal stroma Multiple cafe-au-lait spots Abnormality of the vasculature Glomerulopathy Protuberant abdomen Atherosclerosis Superior pectus carinatum Bone marrow hypocellularity Dementia Corneal opacity Stroke Autoimmunity Scarring Hyperlordosis Developmental regression Proteinuria Thin upper lip vermilion Osteopenia Renal insufficiency Platyspondyly Kyphosis Cerebellar atrophy Motor delay Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes Dry hair Pili torti Anhidrosis Brittle hair Alopecia Hip dislocation Malabsorption Lymphopenia Waddling gait Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Disproportionate short-trunk short stature Premature birth Astigmatism Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Neutropenia Nephropathy Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Microdontia Right ventricular cardiomyopathy B-cell lymphoma Amblyopia Myelodysplasia Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Plagiocephaly Lymphedema Left ventricular hypertrophy Abnormality of the coagulation cascade Clumsiness Ventricular hypertrophy Dental malocclusion Abnormal bleeding Abdominal distention Triangular face High, narrow palate Bruising susceptibility Panuveitis Facial asymmetry Radial deviation of finger Leukocytosis Pulmonic stenosis Restrictive cardiomyopathy Amegakaryocytic thrombocytopenia Reduced factor XII activity Neurofibrosarcoma Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Schwannoma Synovitis Shield chest Atrial flutter Abnormality of color vision Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Cystic hygroma Neurofibromas Juvenile myelomonocytic leukemia Broad forehead Lymphoproliferative disorder Shallow acetabular fossae Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Muscle hypertrophy of the lower extremities Encephalomalacia Increased thyroid-stimulating hormone level Steroid-resistant nephrotic syndrome Pain Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Preductal coarctation of the aorta Lateral displacement of the femoral head Cataract Abnormal cardiac septum morphology Rod-cone dystrophy Sparse hair Hypertrophic cardiomyopathy Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Proptosis Loose anagen hair Pectus excavatum of inferior sternum Abdominal pain Posteriorly rotated ears Constipation Ptosis Abnormal heart morphology Clinodactyly Hernia Dilatation Edema Ventricular septal defect Gonadal neoplasm Reduced factor XIII activity Nasogastric tube feeding Downslanted palpebral fissures Ovarian serous cystadenoma Autistic behavior Cervix cancer Hypertriglyceridemia Hypergonadotropic hypogonadism Conductive hearing impairment Premature coronary artery atherosclerosis Increased LDL cholesterol concentration Decreased HDL cholesterol concentration Oligospermia Hypercholesterolemia Insulin resistance Myocardial infarction Hypoplasia of the uterus Hepatic steatosis Abnormality of the liver Tall chin Birth length less than 3rd percentile Abdominal obesity Male hypogonadism Large earlobe Depressed nasal tip External genital hypoplasia Premature ovarian insufficiency Elevated circulating follicle stimulating hormone level Drooling Congenital hypoplastic anemia Hemolytic anemia Iris coloboma Blepharophimosis Upslanted palpebral fissure Prominent eyelashes Moderate hearing impairment Reduced sperm motility Abnormal spermatogenesis Anemia of inadequate production Elevated circulating luteinizing hormone level Progressive sensorineural hearing impairment Narrow palpebral fissure Bilateral sensorineural hearing impairment Synophrys Prominent nasal bridge Primary testicular failure Delayed menarche Hypoplasia of the ovary Hypoplasia of the vagina Agitation Widely spaced teeth Microcornea Absent speech EEG abnormality Difficulty walking Macrotia Acidosis Autism Gait ataxia Hyperactivity Babinski sign Long philtrum Aggressive behavior Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Hyperreflexia Delayed speech and language development Spasticity Cleft palate Muscular hypotonia Generalized hypotonia Hypoglycemia Muscular hypotonia of the trunk Pancreatitis Broad nasal tip Spastic tetraparesis Progressive microcephaly Lower limb spasticity Open mouth Tetraparesis Sloping forehead Growth hormone deficiency Round face Full cheeks Tapered finger Cleft lip Downturned corners of mouth Thick vermilion border Inability to walk Long face Lactic acidosis Poor speech Severe global developmental delay Small for gestational age Attention deficit hyperactivity disorder Retinal dystrophy Mitral valve prolapse Abnormal internal genitalia Spotty hyperpigmentation Recurrent otitis media Ambiguous genitalia Nail dysplasia Tachycardia Visual impairment Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hypopigmentation Horseshoe kidney Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Chromosome breakage Gynecomastia Short metatarsal Acute leukemia Urogenital sinus anomaly Abnormality of the scrotum Ovotestis Penoscrotal hypospadias Dyscalculia Streak ovary Ambiguous genitalia, female Epispadias Unilateral cryptorchidism Chordee Bifid scrotum Ambiguous genitalia, male Decreased serum testosterone level Gonadoblastoma Short 4th metacarpal Increased circulating gonadotropin level Prolonged QT interval Congenital glaucoma Hallux valgus Bilateral cryptorchidism Hypoplasia of the zygomatic bone IgG deficiency Hypogonadotrophic hypogonadism Clinodactyly of the 5th finger Finger syndactyly Skin rash Erythema Protruding ear Polydactyly Hyperhidrosis Severe short stature Recurrent respiratory infections Syndactyly Ichthyosis Malar flattening Short nose Failure to thrive Supernumerary ribs Spherocytosis Abnormality of the hypothalamus-pituitary axis External ear malformation Preauricular pit Anosmia Dolichocephaly Decreased antibody level in blood Hodgkin lymphoma Narrow face IgA deficiency Acute myeloid leukemia Myeloid leukemia Telangiectasia of the skin Pulmonary fibrosis Squamous cell carcinoma Hand polydactyly Reduced number of teeth Hypopigmented skin patches Sinusitis Prominent nose Cafe-au-lait spot Telangiectasia Bronchiectasis Abnormality of the face Hypertrichosis Cutaneous photosensitivity Specific learning disability Otitis media Abnormality of the skin Postductal coarctation of the aorta


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