Cryptorchidism, and Schizophrenia

Diseases related with Cryptorchidism and Schizophrenia

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


Top matches:

High match CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA


Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

High match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

High match 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

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Other less relevant matches:

High match 1Q21.1 MICRODELETION SYNDROME


1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

High match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

High match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

High match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

High match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Top 5 symptoms//phenotypes associated to Cryptorchidism and Schizophrenia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Behavioral abnormality Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Autism

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Attention deficit hyperactivity disorder

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Intellectual disability, mild

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Microcephaly Epicanthus Strabismus Anxiety Atrial septal defect Hydrocephalus Abnormal facial shape Intrauterine growth retardation Feeding difficulties Depressivity Ptosis Pectus excavatum Hypothyroidism Joint hyperflexibility Aggressive behavior Agenesis of corpus callosum Inguinal hernia Patent ductus arteriosus Microphthalmia High forehead Long philtrum Downslanted palpebral fissures Wide nasal bridge Hyperactivity Diabetes mellitus Ventricular septal defect Abnormality of the dentition Intellectual disability, moderate Protruding ear Malar flattening Flexion contracture Talipes equinovarus Prominent nasal bridge Delayed speech and language development Depressed nasal bridge Hand polydactyly Coarctation of aorta Vesicoureteral reflux Osteopenia Gait disturbance Restlessness Neurological speech impairment Hydronephrosis Constipation Abnormal cardiac septum morphology Joint laxity Sensorineural hearing impairment Clinodactyly of the 5th finger Dehydration Feeding difficulties in infancy High palate Otitis media Growth delay Autistic behavior Hypertonia Spasticity Hypertelorism Hypospadias Urethral stenosis Glaucoma Obsessive-compulsive behavior Gastroesophageal reflux Ataxia Abnormal form of the vertebral bodies Cleft palate Low-set ears Hypogonadism Osteoporosis Tetralogy of Fallot Cognitive impairment Renal hypoplasia

Rare Symptoms - Less than 30% cases


Neurodegeneration Bradykinesia Genu valgum Hypoplasia of the maxilla Thick lower lip vermilion Hypertension Hyperreflexia Tremor Dysarthria Recurrent respiratory infections Irritability Abnormality of the voice Anteverted nares Myopathy Kyphosis Midface retrusion Brachycephaly Gait ataxia Narrow mouth Macrotia Type II diabetes mellitus Conductive hearing impairment Developmental regression Incoordination Broad forehead Narrow face Narrow chest Involuntary movements Open mouth Abnormal palate morphology Thrombocytopenia Poor coordination Brachydactyly Infantile muscular hypotonia Aortic valve stenosis Abnormal thrombocyte morphology Amblyopia Retinal arteriolar tortuosity Microdontia Postural instability Smooth philtrum Ventriculomegaly Bipolar affective disorder Congestive heart failure Short nose Hernia Abnormal heart morphology Small for gestational age Craniosynostosis Low-set, posteriorly rotated ears Pes planus Prominent forehead Patellar dislocation Slender finger Abnormal glucose tolerance Short philtrum Optic atrophy Short neck Chronic constipation Immunodeficiency Abnormality of cardiovascular system morphology Obesity Umbilical hernia Arthritis Telecanthus Carious teeth Posterior embryotoxon Anal atresia Arachnodactyly Long face Intestinal malrotation Spina bifida Abnormality of dental enamel Nasal speech Cholelithiasis Chronic otitis media Multiple renal cysts Thin upper lip vermilion Cerebral atrophy Hip dysplasia Toe syndactyly Renal insufficiency Small nail Hypoglycemia Unilateral renal agenesis Hallucinations Specific learning disability Facial asymmetry Precocious puberty Multicystic kidney dysplasia Asthma Hip dislocation Hypoplasia of the corpus callosum Short foot Recurrent urinary tract infections Hypogonadotrophic hypogonadism Retrognathia Deeply set eye Bulbous nose Foot polydactyly Anemia Broad hallux phalanx Iris coloboma Truncus arteriosus Azoospermia Transposition of the great arteries Upper limb undergrowth Sleep disturbance Broad thumb High hypermetropia Abnormality of dental morphology Redundant skin Polycystic ovaries Premature graying of hair Hallux valgus Open bite Dysphonia Loss of consciousness Hypercalciuria Polyuria Hypoplastic toenails Hypercalcemia Nephritis Glucose intolerance Failure to thrive in infancy Vomiting Radioulnar synostosis Portal hypertension Tracheoesophageal fistula Vertebral segmentation defect Soft skin Celiac disease Right ventricular hypertrophy Periorbital fullness Gait imbalance Abnormality of refraction Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Tubulointerstitial nephritis Hypoplasia of the zygomatic bone Prematurely aged appearance Blue irides Vocal cord paralysis Down-sloping shoulders Abnormality of the vasculature Pulmonary artery stenosis Abnormality of pelvic girdle bone morphology Nevus flammeus Arnold-Chiari type I malformation Abnormality of lipid metabolism Megalocornea Insomnia Facial cleft Muscular dystrophy Skeletal muscle atrophy Adducted thumb Nausea and vomiting Esotropia Dental malocclusion Chest pain Sudden cardiac death Full cheeks Macroglossia Broad nasal tip Hypodontia Everted lower lip vermilion Thick vermilion border Oral cleft Dysmetria Malabsorption Pulmonic stenosis Abnormality of the cardiovascular system Corneal opacity Stroke Scarring Blepharophimosis Wide mouth Joint stiffness Paralysis Accelerated skeletal maturation Hyperlordosis Abnormality of the kidney Cleft lip Hypertrophic cardiomyopathy Proteinuria Coarse facial features Renal agenesis Narrow forehead Reduced bone mineral density Increased bone mineral density Arnold-Chiari malformation Ischemic stroke Sacral dimple Bicuspid aortic valve Widely spaced teeth Progressive hearing impairment Decreased plasma carnitine Cutis laxa Spina bifida occulta Abnormality of the fingernails Nephrocalcinosis Hemivertebrae Pointed chin Increased body weight Delayed puberty Hypotelorism Hoarse voice Gingival overgrowth Nephrolithiasis Mitral regurgitation Hyperpigmentation of the skin Recurrent otitis media Hemiparesis Myocardial infarction Ventricular hypertrophy Hypsarrhythmia Cardiomegaly Abnormality of extrapyramidal motor function Hypoplasia of penis Mitral valve prolapse Abnormal dermatoglyphics Dysgraphia Peripheral pulmonary artery stenosis Generalized-onset seizure Head tremor Cerebellar vermis atrophy Bronchitis Muscle fibrillation Hypokinesia Akinesia Personality changes Rheumatoid arthritis Slurred speech Hyperkinesis Clumsiness Broad-based gait Progressive neurologic deterioration Neuronal loss in central nervous system Dilated fourth ventricle Brain atrophy Chorea Gliosis Progressive cerebellar ataxia Abnormal cerebellum morphology Falls Abnormality of movement Infertility Abnormality of eye movement Abnormality of the cerebral white matter Cough Mental deterioration Rigidity Chronic bronchitis Testicular atrophy Myoclonus Aortic aneurysm Cat cry Oppositional defiant disorder Low frustration tolerance Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism Aortic root aneurysm Narrow nasal bridge Long nose Disproportionate tall stature Emotional lability Deep philtrum Paranoia Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Short chin Anorexia Dental crowding Psychosis Camptodactyly of finger Dilatation Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Weight loss Dementia Subvalvular aortic stenosis Thyroid hypoplasia Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Retinal vascular tortuosity Coronary artery stenosis Increased nuchal translucency Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Kyphoscoliosis Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Renal artery stenosis Hyperacusis Dystonia Elfin facies Cerebellar atrophy Dysphagia Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Medial flaring of the eyebrow Pelvic kidney Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Arthralgia Adrenal insufficiency Micropenis Ovarian cyst Large fontanelles Sparse and thin eyebrow Horizontal nystagmus Myalgia Polyhydramnios Upslanted palpebral fissure Renal hypoplasia/aplasia Focal impaired awareness seizure Language impairment Long fingers Splenomegaly Shawl scrotum Maturity-onset diabetes of the young Hypertrichosis Aplasia of the uterus Long toe Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Hyperechogenic kidneys Autoimmunity Bilateral sensorineural hearing impairment Ectopic calcification Acne Abnormal eyelid morphology Meningocele Abnormality of the skull Mandibular prognathia Hypoparathyroidism Turricephaly Elevated hepatic transaminase Abnormal lung lobation Nail dystrophy Hyperthyroidism Bowel incontinence Dysphasia Hypermetropia Oligohydramnios Overfolded helix Abnormality of the thorax Polycystic kidney dysplasia Stage 5 chronic kidney disease Laryngomalacia Hypopigmented skin patches Purpura Short palm Hypocalcemia Aganglionic megacolon Choanal atresia Gastrointestinal hemorrhage Highly arched eyebrow Narrow iliac wings Recurrent ear infections Atelectasis Distal amyotrophy Thickened skin Abnormality of upper lip Sparse scalp hair Hypoplasia of the bladder Aplasia of the vagina Cerebral calcification Ureteral atresia Nevus Pica Pancreatic aplasia Downturned corners of mouth Short distal phalanx of finger Unicornuate uterus Clonus Synophrys Congenital cataract Joint hypermobility Abnormal pyramidal sign Broad hallux Pes cavus Babinski sign Areflexia Interrupted aortic arch Ankyloglossia Neoplasm Intellectual disability, severe Abnormality of the skeletal system Gynecomastia Hypergonadotropic hypogonadism Bone cyst Sparse body hair Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Subcortical cerebral atrophy Irregular vertebral endplates Insulin-resistant diabetes mellitus Hyperconvex nail Striae distensae Hip contracture Congenital hypothyroidism Basal ganglia calcification Paraparesis Ankle clonus Mixed hearing impairment Truncal obesity Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Ureterocele Plagiocephaly Osteolysis Spastic paraparesis Knee flexion contracture Varicose veins Chronic obstructive pulmonary disease Cerebral cortical atrophy Wheezing Aplasia/Hypoplasia of the earlobes Nuclear cataract Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Primary adrenal insufficiency Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Natal tooth Broad columella Adrenal hypoplasia Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Trigonocephaly Pyloric stenosis Adrenal hyperplasia Labial hypoplasia Nasolacrimal duct obstruction Holoprosencephaly Abnormality of the curvature of the vertebral column Abdominal pain Cerebellar hypoplasia Elevated serum creatine phosphokinase Delayed skeletal maturation Absent speech Respiratory distress Myopia Shock Hyponatremia Visual impairment Peripheral neuropathy Pain Megakaryocyte dysplasia Abnormality of the head Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Long hallux Tachypnea Horseshoe kidney Abnormality of the uterus Multiple suture craniosynostosis Congenital adrenal hypoplasia Absence of pubertal development Adrenocortical hypoplasia Clinodactyly Arthrogryposis multiplex congenita Recurrent infections Syndactyly Relative macrocephaly Constrictive median neuropathy Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Abnormal aortic arch morphology Camptodactyly Hypertensive crisis Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Abnormal spermatogenesis Postnatal growth retardation Bone marrow hypocellularity Premature birth Renal salt wasting Leukodystrophy Short toe Sinusitis Short thumb Oligospermia Pachygyria Pancytopenia Eczema Decreased circulating cortisol level Growth hormone deficiency Webbed neck Decreased antibody level in blood High-frequency hearing impairment Congenital adrenal hyperplasia Microcornea Single transverse palmar crease Bruising susceptibility Tachycardia Gonadotropin deficiency Talipes Dolichocephaly Long penis Decreased circulating aldosterone level Leukemia Finger syndactyly Skin rash Coloboma Abnormally folded helix



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Ichthyosis, related diseases and genetic alterations Abnormality of the skeletal system and Coronary artery atherosclerosis, related diseases and genetic alterations Autoimmunity and Micropenis, related diseases and genetic alterations Visual impairment and Upslanted palpebral fissure, related diseases and genetic alterations

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