Cryptorchidism, and Gait ataxia

Diseases related with Cryptorchidism and Gait ataxia

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


Top matches:

High match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

High match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

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Other less relevant matches:

High match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

High 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

High match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

High match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

High match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Medium match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Gait ataxia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Ataxia

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Micropenis

Common Symptoms - More than 50% cases


Intellectual disability, severe

Uncommon Symptoms - Between 30% and 50% cases


Short stature Autism Myopia Abnormal facial shape Muscular hypotonia Motor delay Micrognathia Aggressive behavior Nystagmus Protruding ear Macrotia Mandibular prognathia Spasticity Hearing impairment Delayed speech and language development Hypothyroidism Hyperactivity Hypoplasia of the corpus callosum Prominent nose Hypoplasia of penis Absent speech Self-injurious behavior Hypogonadism Open mouth Failure to thrive Diabetes mellitus Astigmatism High palate Feeding difficulties Tapered finger Intrauterine growth retardation Widely spaced teeth Hypospadias Full cheeks Clinodactyly Long face Downturned corners of mouth Attention deficit hyperactivity disorder Scoliosis Tremor Frontal bossing Ventriculomegaly Thick eyebrow Cerebellar hypoplasia Dental crowding Thin upper lip vermilion Deeply set eye Gastroesophageal reflux Intellectual disability, moderate Coarse facial features Delayed puberty Small for gestational age Wide mouth Hypotelorism Thick vermilion border

Rare Symptoms - Less than 30% cases


Difficulty walking Inguinal hernia Muscular hypotonia of the trunk Hyperreflexia Long philtrum Hypertonia Talipes equinovarus EEG abnormality Sensorineural hearing impairment Dandy-Walker malformation Ptosis Severe global developmental delay Autistic behavior Cupped ear Wide nasal bridge Finger clinodactyly Febrile seizures Smooth philtrum Sleep disturbance Single transverse palmar crease Small hand Hypermetropia Central hypothyroidism Hypertelorism Postnatal growth retardation Round face Constipation Depressed nasal bridge Encephalopathy Anteverted nares Behavioral abnormality Hypopigmentation of the skin Type I diabetes mellitus Truncal ataxia Narrow mouth Epicanthus Progressive microcephaly Recurrent hypoglycemia High forehead Cataract Cerebral cortical atrophy External genital hypoplasia Obesity Focal impaired awareness seizure Scrotal hypoplasia Rod-cone dystrophy Focal-onset seizure Hypoglycemia Dysmetria Sparse hair Retrognathia Neurological speech impairment Short philtrum Neonatal hypotonia Poor speech Growth hormone deficiency Prominent forehead Cleft palate Cognitive impairment Macrocephaly Arachnodactyly Agenesis of corpus callosum Happy demeanor Abnormality of the helix Glaucoma Reduced visual acuity Rigidity Coloboma Optic nerve hypoplasia Congenital cataract Opacification of the corneal stroma Falls Choanal atresia Narrow palate Exotropia Polymicrogyria Amblyopia Retinal detachment Pes valgus Abnormal pattern of respiration Microphthalmia Renal dysplasia Microcornea Recurrent urinary tract infections Breathing dysregulation Thickened helices Visual loss Pain Kyphosis Decreased testicular size Anemia Brachydactyly Syndactyly Recurrent infections Hernia Osteoporosis Triangular nasal tip Polyhydramnios Camptodactyly Abnormal cardiac septum morphology Dolichocephaly Toe syndactyly High myopia Large beaked nose Microretrognathia Cutaneous syndactyly Spondyloepiphyseal dysplasia Mild microcephaly Broad fingertip Intermittent hyperventilation Narrow foot Neoplasm Failure of eruption of permanent teeth Bilateral ptosis Small cerebral cortex Square face Blindness Anosmia Postnatal microcephaly Ectopia lentis Coarse hair Aplasia/Hypoplasia of the corpus callosum Short neck Paroxysmal bursts of laughter Sleep apnea Mutism Hypopigmented skin patches Incoordination Abnormal palate morphology Abnormality of the skeletal system Fatigue Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Pneumonia Pes cavus Central adrenal insufficiency Abdominal distention Thick lower lip vermilion Narrow forehead Cyanosis Specific learning disability Convex nasal ridge Wide intermamillary distance Prominent nasal bridge Intellectual disability, progressive Abnormal autonomic nervous system physiology Abnormality of the pinna Apnea Anxiety Pes planus Upslanted palpebral fissure Aphakia Vascular tortuosity Nephroblastoma Hypoplasia of the iris Echolalia Ectopia pupillae Action tremor Hypoplasia of the fovea Clubbing of fingers Hand tremor Limb hypertonia Peters anomaly Aniridia Hypopituitarism Adrenal insufficiency Albinism Anophthalmia Aganglionic megacolon Hyposmia Misalignment of teeth Short metatarsal Dysphasia Clubbing Overlapping toe Supernumerary nipple Macular hypoplasia Aphasia Retinal vascular tortuosity Hodgkin lymphoma Esophagitis Lower limb hypertonia Hyperventilation Abnormal glucose tolerance Ocular pain Hiatus hernia Acrocyanosis Decreased light- and dark-adapted electroretinogram amplitude Abnormality of lower lip Hypoplasia of the brainstem Hemifacial hypoplasia Long eyebrows Pigmentary retinopathy Sparse scalp hair Clumsiness Long eyelashes Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Titubation Alopecia areata Choroideremia Central heterochromia Distal amyotrophy Aplasia/Hypoplasia of the cerebellum Cleft lip Acidosis Babinski sign Abnormality of the basal ganglia High-frequency hearing impairment Basal ganglia calcification Pointed chin Flexion contracture Narrow face Choreoathetosis Cerebral calcification Neurodegeneration Dementia Hydrocephalus Progressive cerebellar ataxia Retinal degeneration Inability to walk Poor eye contact Disorganization of the anterior cerebellar vermis Infra-orbital crease Retrocerebellar cyst Abnormality of the philtrum Microphallus Enlarged cisterna magna Long nose Rhizomelia Prominent supraorbital ridges Intention tremor Cerebellar vermis hypoplasia Triangular face Abnormal cerebellum morphology Dilatation Ventricular septal defect Coxa valga Peripheral axonal neuropathy Cerebellar atrophy Paraplegia Spastic paraplegia Distal muscle weakness Pallor Severe short stature Alopecia Peripheral neuropathy Accelerated skeletal maturation Muscle weakness Broad femoral neck Obstructive sleep apnea Scaphocephaly 2-3 toe syndactyly Metaphyseal widening Lactic acidosis Broad nasal tip Macrodontia Everted lower lip vermilion Visual impairment Fever Vomiting Short nose Malar flattening Clinodactyly of the 5th finger Brachycephaly Feeding difficulties in infancy Microtia Broad forehead Synophrys Facial asymmetry Bulbous nose Short palm Highly arched eyebrow Increased vertebral height Absence seizures Short attention span Polyphagia Language impairment Tented upper lip vermilion Infantile muscular hypotonia Sandal gap Short chin Short foot Generalized hirsutism Low anterior hairline Stereotypy Epileptic encephalopathy Hip dysplasia Esotropia Low-set ears Kinetic tremor Sloping forehead Large earlobe Downslanted palpebral fissures Dysarthria Tall chin Birth length less than 3rd percentile Abdominal obesity Male hypogonadism Depressed nasal tip Delayed skeletal maturation Agitation Drooling Pancreatitis Spastic tetraparesis Lower limb spasticity Tetraparesis Pectus excavatum Kyphoscoliosis Prominent superficial veins Hyperglycemia Maternal diabetes Down-sloping shoulders Ketoacidosis High pitched voice Brisk reflexes Polyuria Polydipsia Hyperlordosis Oligodontia Abnormal vertebral morphology Fine hair Renal hypoplasia Blue sclerae Delayed myelination Overhanging nasal tip



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