Cataract, and Tetraplegia

Diseases related with Cataract and Tetraplegia

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


Top matches:

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cataract


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4

Low match COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT


Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B


Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

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Other less relevant matches:

Low match AMYOTROPHIC LATERAL SCLEROSIS


Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

Low match CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME


ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM 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

Low match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Low match MICRO SYNDROME


Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Low match WARBURG MICRO SYNDROME 3; WARBM3


Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

WARBURG MICRO SYNDROME 3; WARBM3 Is also known as micro syndrome 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 3; WARBM3

Top 5 symptoms//phenotypes associated to Cataract and Tetraplegia

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

Patients with Cataract and Tetraplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Spasticity Generalized hypotonia Optic atrophy Spastic paraplegia Hyperreflexia Abnormality of the cerebral white matter Paraplegia Flexion contracture Dysarthria Delayed speech and language development Microphthalmia Postnatal microcephaly Cerebral cortical atrophy Spastic paraparesis Paraparesis Leukoencephalopathy Dementia Muscular hypotonia of the trunk Macrotia Intellectual disability, severe Micrognathia Short stature Nystagmus Gait disturbance Hypoplasia of the corpus callosum Hearing impairment Cortical dysplasia Lissencephaly Congenital cataract Polymicrogyria Neurodegeneration Microcornea

Rare Symptoms - Less than 30% cases


Ataxia Spastic diplegia Depressivity Muscular hypotonia Short nose Choreoathetosis Muscle cramps Parkinsonism Generalized myoclonic seizures Frontoparietal polymicrogyria Hypoplastic labia minora Clitoral hypoplasia Hypogonadism Gait ataxia Encephalopathy Brachycephaly Scoliosis Scrotal hypoplasia Kyphosis Intellectual disability, mild Low anterior hairline Pseudobulbar paralysis Dystonia Cerebellar vermis hypoplasia Pachygyria Decreased testicular size Micropenis High palate Abnormality of visual evoked potentials Heterotopia Myopia Peripheral neuropathy Macrocephaly Kyphoscoliosis Skeletal muscle atrophy Cardiomyopathy Motor delay Spastic gait Severe global developmental delay Babinski sign Muscle weakness Coma Right hemiplegia Urinary incontinence Visual impairment Porencephalic cyst Unsteady gait Tremor Absent speech Infantile spasms Glaucoma Hemiplegia Abnormal cerebellum morphology Cerebellar atrophy Intellectual disability, profound Anterior segment developmental abnormality Renal cyst Posterior leukoencephalopathy Migraine Blurred vision Cerebral hemorrhage Cryptorchidism Intracranial hemorrhage Ptosis Dysphonia Thalamic hemorrhage Peripapillary atrophy Retinal arterial tortuosity Hypoplasia of the iris Anterior synechiae of the anterior chamber Hypopigmentation of the fundus Migraine with aura Retinal hemorrhage Neuritis Supraventricular tachycardia Amblyopia Ectopia pupillae Increased intraocular pressure Arterial tortuosity Corneal neovascularization Posterior embryotoxon Rieger anomaly Polycoria Hypopigmentation of the skin Perivascular spaces Diffuse leukoencephalopathy Scotoma Optic neuritis Congenital glaucoma Retinal arteriolar tortuosity Hemiparesis Upper limb spasticity Wide nasal bridge 3-Methylglutaconic aciduria Metabolic acidosis Neutropenia Progressive cerebellar ataxia Aciduria Febrile seizures Memory impairment Progressive visual loss Limb ataxia Spastic tetraparesis Athetosis Short attention span Skeletal myopathy Abnormality of the basal ganglia Nonprogressive cerebellar ataxia Abnormality of movement Testicular dysgenesis Hyperchloremic acidosis Progressive forgetfulness Ventriculomegaly Clinodactyly of the 5th finger Postnatal growth retardation Blepharophimosis Peripheral axonal neuropathy Downturned corners of mouth Hypertrichosis Narrow palate External genital hypoplasia Ankle clonus Labial hypoplasia Confusion Dilated cardiomyopathy Intrauterine growth retardation Decreased muscle mass Anteverted nares Narrow mouth Deeply set eye Hydronephrosis Low-set, posteriorly rotated ears Joint stiffness Short philtrum Delayed puberty Hirsutism Hypoplasia of penis Abnormality of retinal pigmentation Cerebral visual impairment Generalized hirsutism Aplasia/Hypoplasia of the corpus callosum Cerebellar vermis atrophy Hypoglycemia Severe postnatal growth retardation Retinal coloboma Abnormal localization of kidney Nephropathy Failure to thrive Cognitive impairment Hepatomegaly Myopathy Cerebral atrophy Recurrent infections Visual loss Hyperactivity Acidosis Gastroesophageal reflux Retinal detachment Abnormality of extrapyramidal motor function Hematuria Generalized muscle weakness Pain Fatigue Dysphagia Areflexia Myoclonus Respiratory failure Dyspnea Skeletal dysplasia Anxiety Paralysis Nausea and vomiting Gliosis Impaired vibration sensation at ankles Neuronal loss in central nervous system Peripheral demyelination Fasciculations Sleep apnea Slurred speech Emotional lability Amyotrophic lateral sclerosis Agitation Bulbar palsy Muscle fibrillation Xerostomia Frontotemporal dementia Impaired continence Hyperreflexia in upper limbs Degeneration of anterior horn cells Abnormal facial shape Agyria Hydrocephalus Cerebellar hypoplasia Mental deterioration Muscular dystrophy Progressive neurologic deterioration Encephalocele Absence seizures Hypoplasia of the brainstem Occipital encephalocele Type II lissencephaly Gray matter heterotopias Limb muscle weakness Pollakisuria Foot dorsiflexor weakness Postural tremor Impaired vibratory sensation Toe walking Lower limb hyperreflexia Abnormality of the periventricular white matter Loss of speech Mild microcephaly Corpus callosum atrophy Absent Achilles reflex Urinary retention Primitive reflex Abnormal lower motor neuron morphology Degeneration of the lateral corticospinal tracts Tachycardia Progressive spastic paraparesis Psychosis Clumsiness Drooling Progressive spasticity Restlessness Poor coordination Facial hypotonia Macroorchidism Bruxism Shuffling gait Slender build Excessive salivation Mania Small hand Juvenile cataract Strabismus Headache Dilatation Elevated serum creatine phosphokinase Abnormality of the nervous system Facial palsy Retinopathy Stroke Corneal opacity Hypermetropia Astigmatism Apraxia Genu valgum Functional respiratory abnormality Dry skin Motor neuron atrophy Laryngospasm Fatigable weakness of respiratory muscles Fatigable weakness of bulbar muscles Fatigable weakness of swallowing muscles Hypertonia Hernia Inguinal hernia Hyperkeratosis Photophobia Pallor Erythema Ichthyosis Abnormal pyramidal sign Asthma Brain atrophy Delayed myelination High myopia Aspiration Scaling skin Drusen Short neck Abnormality of the dentition Pneumonia Pes cavus EEG abnormality Shallow anterior chamber



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