Cryptorchidism, and Psychosis
Diseases related with Cryptorchidism and Psychosis
In the following list you will find some of the most common rare diseases related to Cryptorchidism and Psychosis that can help you solving undiagnosed cases.
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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
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Scoliosis
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME
Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.
KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about KLEEFSTRA SYNDROME 1; KLEFS1
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Other less relevant matches:
Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.
PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about PRADER-WILLI SYNDROME; PWS
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME
X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).
X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME
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
Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.
WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Ataxia
- Growth delay
SOURCES:
OMIM
MENDELIAN
More info about WOLFRAM SYNDROME 1; WFS1
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Scoliosis
- Hypertelorism
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about WOODHOUSE-SAKATI SYNDROME
Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about ASPARTYLGLUCOSAMINURIA; AGU
Top 5 symptoms//phenotypes associated to Cryptorchidism and Psychosis
Symptoms // Phenotype |
% cases |
Intellectual disability |
Very Common - Between 80% and 100% cases
|
Seizures |
Very Common - Between 80% and 100% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Scoliosis |
Common - Between 50% and 80% cases
|
Behavioral abnormality |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Cryptorchidism and Psychosis. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Generalized hypotonia
Uncommon Symptoms - Between 30% and 50% cases
Microcephaly
Common Symptoms - More than 50% cases
Growth delay
Uncommon Symptoms - Between 30% and 50% cases
Cognitive impairment
Common Symptoms - More than 50% cases
Delayed speech and language development
Uncommon Symptoms - Between 30% and 50% cases
Muscular hypotonia
Autism
Intellectual disability, severe
Intellectual disability, mild
Hearing impairment
Micropenis
Hyperactivity
Micrognathia
Nystagmus
High palate
Diabetes mellitus
Attention deficit hyperactivity disorder
Abnormality of the dentition
Aggressive behavior
Feeding difficulties
Dilatation
Short stature
Hyperreflexia
Cataract
Hypogonadism
Narrow nasal bridge
Small hand
Emotional lability
Autistic behavior
Macroorchidism
Hallucinations
Hernia
Abnormality of the pinna
Obesity
Hypertelorism
Strabismus
Cleft palate
Motor delay
High forehead
Intrauterine growth retardation
Macrocephaly
Ventriculomegaly
Anteverted nares
Short neck
Short nose
Brachycephaly
Recurrent respiratory infections
Atrial septal defect
Kyphosis
Abnormality of the nervous system
Protruding ear
EEG abnormality
Macrotia
Myoclonus
Developmental regression
Delayed puberty
Ataxia
Blindness
Malar flattening
Spasticity
Gait disturbance
Hydronephrosis
Sensorineural hearing impairment
Diarrhea
Sleep disturbance
Rare Symptoms - Less than 30% cases
Cardiomyopathy
Depressed nasal bridge
Gastroesophageal reflux
Amenorrhea
Dehydration
Vesicoureteral reflux
Joint laxity
Inguinal hernia
Dysarthria
Hypergonadotropic hypogonadism
Coarctation of aorta
Midface retrusion
Bicuspid aortic valve
Abnormal facial shape
Obsessive-compulsive behavior
Recurrent infections
Cerebral atrophy
Macroglossia
Prominent forehead
Wide mouth
Apnea
Upslanted palpebral fissure
Agenesis of corpus callosum
Constipation
Respiratory failure
Weight loss
Talipes equinovarus
Ventricular septal defect
Brachydactyly
Abnormality of metabolism/homeostasis
Thin upper lip vermilion
Mental deterioration
Long nose
Broad forehead
Hypermetropia
Genu valgum
Arachnodactyly
Pyloric stenosis
Downturned corners of mouth
Narrow palpebral fissure
Renal cyst
Tapered finger
Edema
Flat face
Coarse facial features
Peripheral neuropathy
Prominent nasal bridge
Myopia
Congestive heart failure
Flexion contracture
Self-injurious behavior
Gait ataxia
Intellectual disability, progressive
Babinski sign
Stereotypy
Dystonia
Tremor
Thin vermilion border
Anxiety
Choreoathetosis
Deeply set eye
Cerebral cortical atrophy
Dementia
Visual loss
Microphthalmia
Optic atrophy
Failure to thrive
Neoplasm
Polyphagia
Abnormality of extrapyramidal motor function
Nasal speech
Sleep apnea
Frontal bossing
Hypertension
Low-set ears
Ptosis
Primary amenorrhea
Clumsiness
Hypogonadotrophic hypogonadism
Hypothyroidism
Spastic paraparesis
Progressive spastic paraparesis
Poor gross motor coordination
Abnormally folded helix
Acromicria
Cat cry
Patent ductus arteriosus
Oppositional defiant disorder
Excessive salivation
Hypoplasia of the maxilla
Low frustration tolerance
Velopharyngeal insufficiency
Ascending tubular aorta aneurysm
Slender build
Shuffling gait
Absent speech
Almond-shaped palpebral fissure
Long face
Open mouth
Drooling
Rigidity
Depressivity
Progressive spasticity
Thrombocytopenia
Hypoplastic labia minora
Psychotic episodes
Narrow palm
Mania
Dysphagia
Fatigue
Neurological speech impairment
Joint hyperflexibility
Juvenile cataract
Hypopnea
Impaired social interactions
Encephalopathy
Dental crowding
Aplasia/Hypoplasia of the corpus callosum
Apraxia
Abnormality of the voice
Deep philtrum
Schizophrenia
Abnormality of the genitourinary system
Spastic tetraplegia
Poor coordination
Disproportionate tall stature
Short chin
Postnatal microcephaly
Narrow face
Spastic gait
Paraparesis
Anorexia
Aortic aneurysm
Slender finger
Bruxism
Muscular hypotonia of the trunk
Camptodactyly of finger
Pneumonia
Pes cavus
Restlessness
Broad thumb
Abnormality of the rib cage
Abnormal pyramidal sign
Pectus excavatum
Spastic paraplegia
Paraplegia
Facial hypotonia
Aortic root aneurysm
Tetraplegia
Parkinsonism
Short philtrum
Camptodactyly
Neurodegeneration
Nyctalopia
Mitral regurgitation
Progressive neurologic deterioration
Thick lower lip vermilion
Overgrowth
Neuronal loss in central nervous system
Gliosis
Generalized myoclonic seizures
Ascites
Neutropenia
Wide nose
Platyspondyly
Erythema
Chronic diarrhea
Hepatosplenomegaly
Delayed skeletal maturation
Long philtrum
Splenomegaly
Abnormality of the skeletal system
Hepatomegaly
Progressive alopecia
Hypoplasia of the fallopian tube
Progressive extrapyramidal movement disorder
Decreased serum insulin-like growth factor 1
Streak ovary
Increased thyroid-stimulating hormone level
Involuntary movements
Gingival overgrowth
Abnormal T-wave
Visceromegaly
Angiofibromas
Oligosacchariduria
Spondylolysis
Angiokeratoma corporis diffusum
Methemoglobinemia
Angiokeratoma
Cranial asymmetry
Hypoplastic frontal sinuses
Adenoma sebaceum
Facial edema
Vacuolated lymphocytes
Abnormality of the ovary
Hydrops fetalis
Spondylolisthesis
Broad face
Beaking of vertebral bodies
Dysostosis multiplex
Palpebral edema
Thickened calvaria
Muscle fibrillation
Pathologic fracture
Acne
Widely spaced teeth
Hoarse voice
Aspiration
Abnormal spermatogenesis
Decreased serum estradiol
Abnormal bleeding
Neurogenic bladder
Diffuse leukoencephalopathy
Central sleep apnea
Gastric ulcer
Abnormal glucose tolerance
Sideroblastic anemia
Pollakisuria
Respiratory arrest
Central diabetes insipidus
Histiocytosis
Testicular atrophy
Stroke-like episode
Central apnea
Limited mobility of proximal interphalangeal joint
Megaloblastic anemia
Dyschromatopsia
Severe sensorineural hearing impairment
Atrophy/Degeneration affecting the brainstem
Blurred vision
Hydroureter
Diabetes insipidus
Abnormality of the urinary system
Anosmia
Leukoencephalopathy
Type I diabetes mellitus
Pigmentary retinopathy
Impaired collagen-induced platelet aggregation
Downslanted palpebral fissures
Decreased serum testosterone level
Myocardial infarction
Anodontia
Heart block
Insulin-resistant diabetes mellitus
Autoimmune thrombocytopenia
Hypoplasia of the uterus
Aplasia/Hypoplasia of the eyebrow
Flat occiput
Sparse eyebrow
Premature ovarian insufficiency
Hyperlipidemia
Purpura
Sparse scalp hair
Fine hair
Alopecia
Bilateral sensorineural hearing impairment
Decreased testicular size
Dental malocclusion
Prominent nose
Triangular face
Polyneuropathy
Sensory neuropathy
Abnormality of movement
Hypotrichosis
Arthrogryposis multiplex congenita
Sparse hair
Temperature instability
Central adrenal insufficiency
Growth hormone deficiency
Triangular mouth
Short toe
Combined immunodeficiency
Unilateral renal agenesis
Anophthalmia
Language impairment
Hand polydactyly
Bilateral ptosis
Aortic regurgitation
Microretrognathia
Hemivertebrae
Pointed chin
Congenital diaphragmatic hernia
Severe combined immunodeficiency
Renal agenesis
Underdeveloped nasal alae
Smooth philtrum
Talipes
Coloboma
Blepharophimosis
Polydactyly
Posteriorly rotated ears
Immunodeficiency
Respiratory insufficiency
Syringomyelia
Arnold-Chiari type I malformation
Vascular neoplasm
Mandibular prognathia
Single transverse palmar crease
Highly arched eyebrow
Everted lower lip vermilion
Poor speech
Facial asymmetry
Pulmonic stenosis
Synophrys
Abnormality of the cerebral white matter
Abnormal cardiac septum morphology
Dyspnea
Abnormal heart morphology
Severe intrauterine growth retardation
Arrhythmia
Hypospadias
Renal insufficiency
Absent nasal bridge
Widely-spaced maxillary central incisors
Chorioretinitis
Pulmonary artery atresia
Optic nerve coloboma
Hydrocele testis
Missing ribs
Multiple renal cysts
Wide nasal bridge
Anterior chamber synechiae
Limitation of joint mobility
Hypotelorism
Severe vision loss
Abnormality of immune system physiology
Abnormal retinal morphology
Aplasia/Hypoplasia of the cerebellum
Ectopia lentis
Cachexia
Progressive hearing impairment
Opacification of the corneal stroma
Clonus
Intellectual disability, profound
Migraine
Abnormality of the vasculature
Retinal detachment
Retinal degeneration
Confusion
Corneal opacity
Retinopathy
Irritability
Abnormality of the eye
Glaucoma
Hypertonia
Visual impairment
Muscle weakness
Hypoplasia of the iris
Sclerocornea
Neoplasm of the eye
Leukocoria
Uterine rupture
Aplasia/Hypoplasia of the lens
Abnormal cochlea morphology
Retinopathy of prematurity
Abnormality of the diencephalon
Corneal degeneration
Abnormal vitreous humor morphology
Posterior synechiae of the anterior chamber
Phthisis bulbi
Erectile abnormalities
Abnormal chorioretinal morphology
Vitreoretinopathy
Shallow anterior chamber
Exudative vitreoretinopathy
Remnants of the hyaloid vascular system
Retinal fold
Retinoblastoma
Venous insufficiency
Anterior synechiae of the anterior chamber
Abnormal pupil morphology
Abnormality of the retinal vasculature
Abnormality of the helix
Retinal dysplasia
Delayed eruption of teeth
Tetralogy of Fallot
Disseminated intravascular coagulation
Poor suck
Adrenal insufficiency
Skeletal muscle hypertrophy
Albinism
Glucose intolerance
Inflammation of the large intestine
Large hands
Radial deviation of finger
Hyperinsulinemia
Precocious puberty
Failure to thrive in infancy
Infantile muscular hypotonia
Truncal obesity
Scrotal hypoplasia
Spontaneous abortion
Increased body weight
Aortic valve stenosis
Bradycardia
Insulin resistance
Cutaneous photosensitivity
Type II diabetes mellitus
Decreased fetal movement
Oligohydramnios
Narrow forehead
Decreased muscle mass
External genital hypoplasia
Specific learning disability
Chromosome breakage
Erysipelas
Frontal upsweep of hair
Clitoral hypoplasia
Anteverted ears
Poor fine motor coordination
Abdominal obesity
Cor pulmonale
Generalized hypopigmentation
Hypothermia
Ocular albinism
Hypoplasia of the fovea
Myeloid leukemia
Acrocyanosis
Oligomenorrhea
Overweight
Central hypotonia
Abnormality of lipid metabolism
Iris hypopigmentation
Hypoventilation
Hypopigmentation of hair
Pulmonary embolism
Striae distensae
Impaired pain sensation
Abnormality of the cardiovascular system
Hip dysplasia
Hypoplasia of penis
Abnormal renal morphology
Epicanthus
Pain
Tracheobronchomalacia
Exaggerated cupid's bow
Conotruncal defect
U-Shaped upper lip vermilion
Bronchomalacia
Persistence of primary teeth
Abnormal myelination
Advanced eruption of teeth
Thickened helices
Myopathy
Self-mutilation
Pulmonary artery stenosis
Tracheomalacia
Protruding tongue
Natal tooth
Bowel incontinence
Supernumerary nipple
Impulsivity
Apathy
Chronic otitis media
Tented upper lip vermilion
Fever
Vomiting
Febrile seizures
Pruritus
Esotropia
Gastrointestinal hemorrhage
Full cheeks
Sepsis
Hypopigmentation of the skin
Short foot
Short palm
Polymicrogyria
Infertility
Carious teeth
Dolichocephaly
Syndactyly
Leukemia
Stroke
Respiratory tract infection
Neonatal hypotonia
Hypoglycemia
Photophobia
Osteopenia
Narrow mouth
Osteoporosis
Hyporeflexia
Clinodactyly
Aspartylglucosaminuria
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Fever and Progressive visual loss, related diseases and genetic alterations
Hyperreflexia and Bifid uvula, related diseases and genetic alterations
Edema and Abnormality of the metaphysis, related diseases and genetic alterations
Epicanthus and Blue sclerae, related diseases and genetic alterations
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