Myopia, and Generalized seizures

Diseases related with Myopia and Generalized seizures

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


Top matches:

Low match 5Q35 MICRODUPLICATION SYNDROME

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

5Q35 MICRODUPLICATION SYNDROME Is also known as dup(5)(q35); trisomy 5q35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET

More info about 5Q35 MICRODUPLICATION SYNDROME

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match LISSENCEPHALY 2; LIS2

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY 2; LIS2 Is also known as lissencephaly syndrome, norman-roberts type, norman-roberts syndrome;microlissencephaly type a

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica


SOURCES: OMIM MONDO UMLS SCTID ORPHANET GARD DOID

More info about LISSENCEPHALY 2; LIS2

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Other less relevant matches:

Low match SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS Is also known as ;spprs syndrome; spastic paraplegia-psychomotor retardation-seizures syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO OMIM ORPHANET UMLS

More info about SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS

Low match ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR

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

ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR Is also known as ;congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS ORPHANET MONDO OMIM

More info about ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR

Low match ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN

gene; 4p16.3).

ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN Is also known as saddan dysplasia;saddan

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM SCTID ORPHANET

More info about ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN

Low match HAREL-YOON SYNDROME; HAYOS

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

HAREL-YOON SYNDROME; HAYOS Is also known as ;harel-yoon syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: ORPHANET OMIM MONDO UMLS

More info about HAREL-YOON SYNDROME; HAYOS

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID MONDO NCIT MESH UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Low match BIOTINIDASE DEFICIENCY

Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see {253270}) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively.Some patients with biotinidase deficiency present in infancy (Baumgartner et al., 1985; Kalayci et al., 1994), and some individuals with this deficiency are asymptomatic (Wolf et al., 1997).

BIOTINIDASE DEFICIENCY Is also known as btd deficiency, multiple carboxylase deficiency, late-onset, multiple carboxylase deficiency, juvenile-onset;btd deficiency; juvenile-onset multiple carboxylase deficiency; late-onset multiple carboxylase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO DOID OMIM ICD10 MESH NCIT UMLS ORPHANET SCTID GARD

More info about BIOTINIDASE DEFICIENCY

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR Is also known as snyder-robinson mental retardation syndrome;srs;snyder-robinson syndrome

Related symptoms:

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


SOURCES: SCTID MESH MONDO UMLS ORPHANET OMIM GARD DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Top 5 symptoms//phenotypes associated to Myopia and Generalized seizures

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

Patients with Myopia and Generalized seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Autosomal recessive inheritance Delayed speech and language development High myopia Short stature Growth delay Generalized myoclonic seizures Gait ataxia Hypoplasia of the corpus callosum Intellectual disability, profound Muscular hypotonia Autosomal dominant inheritance Frontal bossing Hearing impairment Abnormal facial shape Hypertonia Scoliosis Nystagmus Dysarthria Cerebellar atrophy Optic atrophy Spasticity Hypertelorism

Rare Symptoms - Less than 30% cases


Inability to walk Lumbar hyperlordosis Facial asymmetry Delayed myelination Downturned corners of mouth Abnormality of the foot Aciduria Bulbous nose Muscular hypotonia of the trunk Kyphosis Abnormality of the skeletal system Talipes equinovarus Dental crowding Sensorineural hearing impairment Strabismus Developmental regression Motor delay Broad-based gait Coma Mandibular prognathia Absent speech Esotropia Feeding difficulties Absence seizures Gastroesophageal reflux Intellectual disability, severe Pectus carinatum Ptosis Vomiting Feeding difficulties in infancy Brain atrophy Erythema Cataract Micrognathia Short nose Prominent nasal bridge Behavioral abnormality Unsteady gait Visual impairment Anteverted nares Hip dysplasia Abnormal cerebellum morphology Osteoporosis Postnatal growth retardation Delayed skeletal maturation Cognitive impairment Pica Recurrent infections Diarrhea Splenomegaly Hepatomegaly Muscle weakness Acidosis Visual loss Alopecia Bitemporal hollowing Abnormality of the nervous system Apnea Skin rash Lactic acidosis Lethargy Metabolic acidosis Inflammatory abnormality of the skin Conjunctivitis Hyperammonemia Urticaria Recurrent skin infections Tachypnea Visual field defect Abnormality of lower lip Infantile muscular hypotonia Hemifacial hypoplasia Open mouth Hypermetropia Thick eyebrow Everted lower lip vermilion Short foot Highly arched eyebrow Astigmatism Small hand Sleep disturbance Focal seizures Febrile seizures Prominent nose Epileptic encephalopathy Short attention span Low anterior hairline Sandal gap Widely spaced teeth Finger clinodactyly Tented upper lip vermilion Short chin Focal seizures with impairment of consciousness or awareness Language impairment Cupped ear Basal ganglia calcification Self-injurious behavior Polyphagia Stridor Bronchitis Infantile spasms Narrow face Smooth philtrum Arachnodactyly High, narrow palate Recurrent fractures Bifid uvula Postural instability Webbed neck Wide intermamillary distance Spontaneous abortion Thick lower lip vermilion Tall stature Hyperpigmentation of the skin Nasal speech Synophrys Sparse eyebrow Decreased muscle mass Long fingers Disproportionate tall stature Slender finger Epileptic spasms Slender build Hyperextensibility of the finger joints Long hallux Small earlobe Narrow palm Focal motor seizures Long palm Abnormality of movement Camptodactyly Iris hypopigmentation Perioral eczema Specific learning disability Diffuse cerebral atrophy Organic aciduria Hyperventilation Seborrheic dermatitis Alcoholism Recurrent fungal infections Hyperglycinuria Keratoconjunctivitis Diffuse cerebellar atrophy Laryngeal stridor Desquamation of skin soon after birth Metabolic ketoacidosis Decreased biotinidase activity Clonus Cleft palate Cryptorchidism High palate Gait disturbance Pectus excavatum X-linked recessive inheritance Brachycephaly Myoclonus Narrow mouth Kyphoscoliosis Intellectual disability, moderate Abnormality of the pinna Short philtrum Short palm Aggressive behavior Autistic behavior Drusen Photophobia Pallor Ichthyosis Dry skin Tetraplegia Dysmetric saccades Spastic tetraplegia Asthma Aspiration Scaling skin Abnormality of visual evoked potentials Brisk reflexes Nevus Depressed nasal bridge Status epilepticus Cortical visual impairment Hydrocephalus Narrow forehead Congestive heart failure Midface retrusion Severe short stature Respiratory failure Apraxia Skeletal dysplasia Craniosynostosis Hyperkeratosis Congenital onset Platyspondyly Pachygyria Type I lissencephaly Cavum septum pellucidum Macrocephaly Colpocephaly Severe postnatal growth retardation Prominent occiput Dystonia Cerebral atrophy Obesity Lissencephaly Lymphedema Hip dislocation Sloping forehead Hernia Retinal dystrophy Waddling gait Agenesis of corpus callosum Tetraparesis Cerebellar hypoplasia Lower limb spasticity Atrial septal defect Overweight Edema Hyperreflexia Flexion contracture Inguinal hernia Severe global developmental delay Micromelia Broad forehead Low-set ears Deeply set eye Congenital cataract Delayed puberty Distal amyotrophy Long face Peripheral axonal neuropathy Increased serum lactate Tremor Optic nerve hypoplasia Abnormality of mitochondrial metabolism Wide nasal bridge Fever Hypertrophic cardiomyopathy Clinodactyly of the 5th finger Encephalopathy Retrognathia Clinodactyly Coarse facial features Autism EEG abnormality Thin upper lip vermilion Thick cerebral cortex Protruding ear Wide mouth Microtia Prominent forehead High forehead Otitis media Abnormality of the clavicle Epidermal acanthosis Pulmonary arterial hypertension Exotropia Wide anterior fontanel Rhizomelia Acanthosis nigricans Tibial bowing Sleep apnea Femoral bowing Thoracic hypoplasia Mesomelia Megalencephaly Central apnea Osteopenia Cloverleaf skull Metaphyseal chondrodysplasia Fibular bowing Aplasia/Hypoplasia of the mandible Enlarged cerebellum Myopathy Peripheral neuropathy Poor speech Infantile onset Cardiomyopathy Dysmetria Upslanted palpebral fissure Asymmetry of the ears


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