Cryptorchidism, and Migraine

Diseases related with Cryptorchidism and Migraine

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


Top matches:

High match NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Medium match SAETHRE-CHOTZEN SYNDROME


Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

Medium match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

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Other less relevant matches:

Medium match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY


ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Medium match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Medium match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Medium match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Medium match NOONAN SYNDROME 1; NS1


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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match 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 Cryptorchidism and Migraine

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Migraine. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Short stature Abnormality of cardiovascular system morphology Hypertension Abnormal heart morphology Atrial septal defect Abnormal facial shape Hypertelorism Hearing impairment Nystagmus Congestive heart failure Low-set ears Ptosis Hypospadias Proptosis Umbilical hernia Strabismus Growth delay Sensorineural hearing impairment Abnormality of the skeletal system Epicanthus Thin vermilion border Brachydactyly Thrombocytopenia Vomiting Dilatation Carcinoma Pain Cognitive impairment Telangiectasia Anemia Hypokalemia Facial asymmetry Amenorrhea Hydrocephalus Gastroesophageal reflux Bruising susceptibility Abnormal cardiac septum morphology Diabetes mellitus Hyperreflexia Dental malocclusion Optic atrophy Sleep apnea Vertigo Telecanthus Failure to thrive Scoliosis Postnatal growth retardation Posteriorly rotated ears Clinodactyly of the 5th finger Deeply set eye Clinodactyly High palate Micrognathia Myelodysplasia Protruding ear Cataract

Rare Symptoms - Less than 30% cases


Arthritis Abnormality of the dentition Hip dislocation Inguinal hernia Pectus excavatum Joint hyperflexibility Hypoplasia of the maxilla Increased intracranial pressure Broad thumb Amblyopia Talipes equinovarus Macrocephaly Plagiocephaly Trigonocephaly Triphalangeal thumb External ear malformation Narrow nose Short columella Adrenogenital syndrome Adrenal hyperplasia Congenital adrenal hyperplasia Failure to thrive in infancy Abnormality of skin pigmentation Coarctation of aorta Intrauterine growth retardation Short neck Intellectual disability, mild Constipation Upslanted palpebral fissure Hypothyroidism Kyphoscoliosis Small for gestational age Triangular face Low posterior hairline Neutropenia Short palpebral fissure Short thumb Fever Patent ductus arteriosus Hypogonadism Hypertrophic cardiomyopathy Leukemia Azoospermia Abnormality of blood and blood-forming tissues Pancytopenia Cardiomyopathy High, narrow palate Feeding difficulties in infancy Abnormal bleeding Abnormality of the skin Microdontia Cardiac arrest Abnormality of the urinary system Hemoptysis Sprengel anomaly Hematochezia Micropenis Primary amenorrhea Ventricular septal defect Secondary amenorrhea Fatigue Diarrhea Hernia Abdominal pain Stroke Clubbing Feeding difficulties Hydronephrosis Ataxia Flat face Respiratory distress Toe syndactyly High forehead Retinal degeneration Aggressive behavior Abnormal pupil morphology Flexion contracture Anxiety Malar flattening Microphthalmia Mandibular prognathia Intellectual disability, moderate Visual impairment Narrow nasal bridge Visual loss Glaucoma Midface retrusion Hypotelorism Depressed nasal bridge Conductive hearing impairment Cleft palate Prominent nasal bridge Broad forehead Abnormality of the eye Irritability Low-set, posteriorly rotated ears Uterine rupture Muscle weakness Craniosynostosis Finger syndactyly Expressive language delay Varicocele Persistent left superior vena cava Hyperextensibility of the finger joints Pseudoarthrosis Lipoma Congenital posterior urethral valve Epididymal cyst Congenital pseudoarthrosis of the clavicle Stiff neck Short upper lip Spinal dysraphism Cone-shaped epiphyses of the phalanges of the hand Broad columella Abnormality of the clavicle Short attention span Enuresis Villous atrophy Tethered cord 11 pairs of ribs Enlarged joints Speech apraxia Enlarged naris Edema Curved fingers Pulmonic stenosis Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Muscular hypotonia Lymphedema Left ventricular hypertrophy Clumsiness Ventricular hypertrophy Wide intermamillary distance Webbed neck Abdominal distention Hypotrichosis Broad fingertip Spasticity Sparse hair Polyhydramnios Intellectual disability, severe Rod-cone dystrophy Blindness Splenomegaly Proportionate short stature Downslanted palpebral fissures Hypertonia Myopia Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Short clavicles Generalized hirsutism Celiac disease Abnormality of the nervous system Camptodactyly of finger Wide mouth Joint stiffness Joint laxity Thin upper lip vermilion Cerebral cortical atrophy Autism Hyperactivity Macrotia EEG abnormality Babinski sign Delayed skeletal maturation Gait disturbance Neurological speech impairment Wide nasal bridge Dysarthria Delayed speech and language development Developmental regression Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Megaloblastic anemia Macrocytic anemia Hyperglycemia Short philtrum Myoclonus High pitched voice Interphalangeal joint contracture of finger Preauricular pit Impulsivity Language impairment Abnormality of the voice Nasal speech Abnormality of the hand Abnormality of the fingernails Nephrocalcinosis Finger clinodactyly Cubitus valgus Behavioral abnormality Long eyelashes Recurrent otitis media Apraxia Hypermetropia Hypoplasia of penis Otitis media Underdeveloped nasal alae Prominent nose Broad nasal tip Dementia Small hand Downturned corners of mouth Hirsutism Bulbous nose Smooth philtrum Poor speech Malabsorption Patent foramen ovale Neuroblastoma Radial deviation of finger Absent radius Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Acute myeloid leukemia Abnormality of femur morphology Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Hyperinsulinemia Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Bicornuate uterus Acute monocytic leukemia Leukopenia Clubbing of toes 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 Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Partial duplication of thumb phalanx Abnormality of the hypothalamus-pituitary axis Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Cranial nerve paralysis Type I diabetes mellitus Abnormality of the coagulation cascade Synovitis 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 Asymmetry of the thorax Multiple lentigines Schwannoma Shield chest Reduced factor XIII activity Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Cone/cone-rod dystrophy Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Leukocytosis Gonadal neoplasm Nasogastric tube feeding Horseshoe kidney Lymphoma Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Cafe-au-lait spot Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Hypopigmentation of the skin Preductal coarctation of the aorta Astigmatism Anal atresia Abnormality of the foot Dolichocephaly Abnormality of the liver Abnormality of the kidney Pes planus Weight loss Severe short stature Renal insufficiency Ventriculomegaly Frontal bossing Hepatomegaly Postductal coarctation of the aorta Polycystic ovaries Retinal dystrophy Aminoaciduria Mitral valve prolapse Abnormal intestine morphology Osteolysis Short chin Joint dislocation Congenital hip dislocation Venous insufficiency Gingival overgrowth Retinoblastoma Subcutaneous nodule Abnormality of the face Thin skin Osteoarthritis Blue sclerae Retinal fold Anterior synechiae of the anterior chamber Remnants of the hyaloid vascular system Premature birth Exudative vitreoretinopathy Shallow anterior chamber Abnormal chorioretinal morphology Joint hypermobility Leukocoria Erectile abnormalities Phthisis bulbi Carious teeth Posterior synechiae of the anterior chamber Abnormal vitreous humor morphology Corneal degeneration Narrow mouth Tinnitus Redundant skin Abnormality of the diencephalon Alopecia of scalp Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Varicose veins Retinal dysplasia Abnormally large globe Periodontitis Aortic dissection Gingivitis Transient ischemic attack Abnormal eyelash morphology Subarachnoid hemorrhage Dilatation of the cerebral artery Premature loss of teeth Aortic aneurysm Abnormality of the helix Esophageal atresia Abnormality of the retinal vasculature Prematurely aged appearance Keratoconus Scleroderma Abnormal joint morphology Fragile skin Abnormal heart valve morphology Telangiectasia of the skin Macule Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Rheumatoid arthritis Alopecia Retinopathy of prematurity Bladder diverticulum Radioulnar synostosis Brachycephaly Coronal craniosynostosis Abnormality of the skull Bilateral cleft lip Shallow orbits Abnormality of digit Vertebral fusion Long nose Delayed cranial suture closure Broad hallux Hallux valgus Open bite Epiphora Abnormality of pelvic girdle bone morphology Blepharospasm Breast carcinoma Abnormality of the genitourinary system Cleft lip Cutaneous syndactyly Hyperlordosis Narrow palate Coxa valga Elbow flexion contracture Bilateral single transverse palmar creases Low anterior hairline Microtia Abnormal form of the vertebral bodies Convex nasal ridge Single transverse palmar crease Abnormality of the antihelix Bilateral cleft lip and palate Abnormal cochlea morphology Deviated nasal septum Aplasia/Hypoplasia of the lens Neoplasm of the eye Respiratory insufficiency Anterior chamber synechiae Vascular neoplasm Cleft of chin Absent first metatarsal Partial duplication of the distal phalanx of the 2nd finger Partial duplication of the distal phalanx of the 3rd finger Renotubular dysgenesis Prominent crus of helix Proximal radio-ulnar synostosis Premature closure of fontanelles Duplication of the distal phalanx of hand Skull asymmetry Abnormal hair pattern Narrow internal auditory canal Mild hearing impairment Craniofacial asymmetry Flat forehead Abnormal nasolacrimal system morphology Parietal foramina Syndactyly Neoplasm of the breast Craniofacial dysostosis Lacrimal duct stenosis Lambdoidal craniosynostosis Anterior plagiocephaly Oxycephaly Buphthalmos Aplasia/Hypoplasia of the abdominal wall musculature Pneumothorax Hoarse voice Hamartomatous polyposis Pneumonia Depressivity Recurrent infections Intellectual disability, profound Psychosis Stereotypy Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Melena Hematemesis Stomach cancer Apnea Rectal prolapse Intestinal polyposis Clubbing of fingers Polycythemia Hamartoma Colon cancer Hallucinations Portal hypertension Hypoalbuminemia Diplopia Epistaxis Cyanosis Gastrointestinal hemorrhage Chest pain Respiratory failure Nausea Clonus Arrhythmia Situs inversus totalis Anorexia Retinopathy Bilateral sensorineural hearing impairment Aciduria Attention deficit hyperactivity disorder Polyneuropathy Paresthesia Lethargy Corneal opacity Pallor Hypoglycemia Delayed puberty Confusion Delayed eruption of teeth Retinal detachment Sleep disturbance Choroid plexus carcinoma Choroid plexus papilloma Papilloma Osteosarcoma Broad ribs Choanal stenosis Broad neck Papilledema Upper limb undergrowth Loss of consciousness Hypertrichosis Macroglossia Cough Opacification of the corneal stroma Periorbital edema Absent earlobe Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Arteriovenous fistula Premature delivery because of cervical insufficiency or membrane fragility Cigarette-paper scars Arterial dissection Internal hemorrhage Colonic diverticula Abnormality of the gingiva Abnormal oral frenulum morphology Gastrointestinal infarctions Dermal translucency Ascending tubular aorta aneurysm Excessive wrinkled skin Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Cystocele Hemothorax Jaundice Hyperaldosteronism Dyspnea Intellectual disability, progressive Progressive hearing impairment Cachexia Ectopia lentis Self-injurious behavior Aplasia/Hypoplasia of the cerebellum Abnormal retinal morphology Hypokalemic alkalosis Female pseudohermaphroditism Decreased circulating renin level Perineal hypospadias Metabolic alkalosis Alkalosis Male pseudohermaphroditism Hypermobility of distal interphalangeal joints Increased circulating cortisol level Bifid scrotum Abnormality of immune system physiology Accelerated skeletal maturation Gynecomastia Severe vision loss Ambiguous genitalia Hypoplasia of the iris Generalized muscle weakness Abnormality of the vasculature Sclerocornea Abnormality of metabolism/homeostasis Vitreoretinopathy Myopathy Abnormality of the preputium



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