Myopia, and Apraxia

Diseases related with Myopia and Apraxia

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


Top matches:

Medium match ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME


Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

Medium 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
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Medium match INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME


Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

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Other less relevant matches:

Medium match MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME


Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Medium match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Medium match JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY


Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Medium match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Medium match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Apraxia

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

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

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Short stature Dysarthria Hypertelorism Feeding difficulties Failure to thrive EEG abnormality Nystagmus Oculomotor apraxia Abnormal facial shape Gastroesophageal reflux Kyphosis Frontal bossing Cerebellar hypoplasia Osteopenia Tremor Aggressive behavior Speech apraxia Hepatomegaly Growth delay Motor delay Wide mouth Absent speech Low-set, posteriorly rotated ears Ventriculomegaly Decreased body weight Gait disturbance Abnormal bleeding Downslanted palpebral fissures Constipation Dysphagia Abdominal distention High palate Autism Epicanthus Cryptorchidism Delayed skeletal maturation Depressivity Thrombocytopenia Splenomegaly Delayed puberty Congestive heart failure Recurrent respiratory infections Fatigue Micrognathia Abnormality of the cardiovascular system Low-set ears Abnormal cardiac septum morphology Infantile muscular hypotonia Muscular hypotonia Abnormal myocardium morphology Cognitive impairment Osteoporosis Poor speech Retinal dystrophy Abnormality of eye movement Spasticity Abnormal cerebellum morphology

Rare Symptoms - Less than 30% cases


Diarrhea Hepatic steatosis Restrictive ventilatory defect Depressed nasal bridge Puberty and gonadal disorders Abnormality of the optic disc Encephalopathy Anemia Erlenmeyer flask deformity of the femurs Elevated hepatic transaminase Orthopnea Spontaneous hematomas Generalized osteosclerosis Abnormality of the kidney Abnormality of the spleen Arrhythmia Avascular necrosis of the capital femoral epiphysis Generalized tonic-clonic seizures Difficulty walking Hydrocephalus Bipolar affective disorder Horizontal supranuclear gaze palsy Edema Sleep apnea Failure to thrive in infancy Dental malocclusion Hypermetropia Open bite Attention deficit hyperactivity disorder Hyperkeratosis Cardiac valve calcification Hypertonia Cataract Hematological neoplasm Feeding difficulties in infancy Dystonia Cerebral atrophy Cerebral cortical atrophy Decreased beta-glucocerebrosidase protein and activity Myoclonus Dementia Leukopenia Pulmonary arterial hypertension Epistaxis Progressive neurologic deterioration Interstitial pulmonary abnormality Bone pain Increased bone mineral density Pericardial effusion Osteolysis Abnormal heart valve morphology Cyanosis Petechiae Increased antibody level in blood Abnormality of the sternum Menorrhagia Clubbing Abnormality of the thorax Increased susceptibility to fractures Portal hypertension Pancytopenia Syncope Cholelithiasis Corneal opacity Abdominal pain Dyspnea Hepatosplenomegaly Proteinuria Multiple myeloma Abnormality of the eye Supranuclear gaze palsy Vertebral compression fractures Neurological speech impairment Generalized myoclonic seizures Lymphadenopathy Hepatocellular carcinoma Abnormality of skin pigmentation Cirrhosis Bruising susceptibility Hematuria Ascites Aseptic necrosis Exertional dyspnea Apnea Vomiting Intention tremor Hypoplasia of the corpus callosum Neonatal hypotonia Anteverted nares Intestinal malrotation Cerebellar atrophy Prominent forehead Open mouth Unsteady gait Malar flattening Inability to walk Hip dysplasia Generalized-onset seizure Narrow forehead Wide nasal bridge Patent foramen ovale Poor suck Cerebral visual impairment Dental crowding Ptosis Macrotia Pes planus Relative macrocephaly Ventricular septal defect Macrocephaly Smooth philtrum Bulbous nose Optic atrophy Wide intermamillary distance Long face Abnormal heart morphology Cerebellar vermis hypoplasia Thick vermilion border High, narrow palate Abnormality of the dentition Muscle weakness Elevated serum creatine phosphokinase High myopia Abnormality of cardiovascular system morphology Abnormality of the cerebral white matter Microcephaly Hearing impairment Abnormal aortic valve morphology Thickened helices Subvalvular aortic stenosis Behavioral abnormality Hyperextensibility of the finger joints Abnormality of the pulmonary artery Excessive wrinkled skin Abnormality of hair texture Cavernous hemangioma Multiple lentigines Short nose Atrial septal defect Blindness Abnormality of ion homeostasis Delayed CNS myelination Abnormality of refraction Abnormality of the optic nerve Aortic valve calcification Abnormal saccadic eye movements Gastrointestinal dysmotility Mitral valve calcification Abnormal mitral valve morphology Intellectual disability, severe Abnormality of the acoustic reflex Slow-growing hair Sleep myoclonus Neoplasm Short neck Cardiomyopathy Abnormality of the testis Abnormal thrombosis Deep palmar crease Submucous cleft hard palate Astrocytosis Cutaneous T-cell lymphoma Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Morphological abnormality of the gastrointestinal tract Hydrops fetalis Progressive cerebellar ataxia Neurodegeneration Malabsorption Ophthalmoplegia Lymphopenia Abnormal pyramidal sign Pallor Mental deterioration Inappropriate crying Abnormality of the auditory canal Rigidity Multiple palmar creases Eyelid fasciculation Multiple plantar creases Tongue thrusting Hypoalbuminemia Sparse or absent eyelashes Slow saccadic eye movements Increased nuchal translucency Endocarditis Frontal balding Protein-losing enteropathy Anterior creases of earlobe Restrictive deficit on pulmonary function testing Hypercoagulability Abnormal tricuspid valve morphology Patchy alopecia Thoracic kyphosis Pulmonary fibrosis Long philtrum Hypoplasia of the frontal lobes Generalized ichthyosis Bulbar palsy Lower limb hyperreflexia Laryngeal cleft Functional abnormality of the gastrointestinal tract Abnormal retinal morphology Opisthotonus Optic nerve dysplasia Posteriorly rotated ears Hernia Abnormality of the gastrointestinal tract Bilateral ptosis Brittle hair Redundant skin Deep philtrum Enlarged kidney Absent eyelashes Hypoplasia of the zygomatic bone Premature skin wrinkling Abnormality of vision Abnormality of the ulna Palmoplantar hyperkeratosis Short attention span Scaling skin Optic nerve hypoplasia Delayed gross motor development Woolly hair Thick upper lip vermilion Abnormality of the genitourinary system Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Sparse eyelashes Narrow palate Sparse eyebrow Pleural effusion Abnormal hair pattern Neurodevelopmental delay Underdeveloped supraorbital ridges Poor appetite Generalized hyperpigmentation Curly hair Biparietal narrowing Atopic dermatitis Multiple cafe-au-lait spots Long palpebral fissure Infantile spasms Neurofibromas Alopecia of scalp Aplasia/Hypoplasia of the eyebrow Ectropion Hydroureter Malnutrition Large for gestational age Absent eyebrow Abnormal eyelash morphology Obsessive-compulsive behavior Heart murmur Chronic otitis media Arnold-Chiari type I malformation Cubitus valgus Melanocytic nevus Abnormality of the nail Aspiration Pectus excavatum Telecanthus Hypotrichosis Dolichocephaly Nail dystrophy Pruritus Leukemia Pectus carinatum Scarring Sparse hair Erythema Respiratory tract infection Irritability Hypertrophic cardiomyopathy Genu valgum Hydronephrosis Umbilical hernia Coarse facial features High forehead Polyhydramnios Proptosis Hyperhidrosis Anal stenosis Alopecia Clinodactyly of the 5th finger Inguinal hernia Pulmonic stenosis Astigmatism Hyperpigmentation of the skin Dystrophic fingernails Lymphedema Cafe-au-lait spot Thickened skin Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Cardiomegaly Progressive visual loss Growth hormone deficiency Dry skin Webbed neck Premature birth Vesicoureteral reflux Nevus Full cheeks Palmoplantar keratoderma Sleep disturbance Falls Joint hypermobility Peripheral axonal neuropathy Ichthyosis Hyperextensible skin Aplasia/Hypoplasia involving bones of the thorax Biliary tract obstruction Autistic behavior Trigonocephaly Hypercholesterolemia Stereotypy Delayed myelination Bifid uvula Triangular face Hypoplasia of the maxilla Small for gestational age Broad forehead Anxiety Oral-pharyngeal dysphagia Mandibular prognathia Hypothyroidism Hyperactivity Intellectual disability, mild Cleft palate Deviated nasal septum Increased head circumference Perseveration Left ventricular noncompaction Language impairment Abnormality of dental morphology Right ventricular hypertrophy Receptive language delay Abnormality of the liver Hyperlordosis Myalgia Proximal muscle weakness Brachycephaly Hyporeflexia Myopathy Intrauterine growth retardation Pain Central sleep apnea Dysphasia Expressive language delay Prominent nasal tip Poor fine motor coordination Abnormality of the pharynx Hypocholesterolemia Abnormal renal morphology Abnormality of chromosome segregation Echolalia Poor eye contact High hypermetropia Slender build Mild global developmental delay Congenital cataract Hyperreflexia Thick eyebrow Synophrys Coloboma Abnormality of the pinna Thin upper lip vermilion Brisk reflexes Status epilepticus Dysmetria Gait ataxia Visual impairment Highly arched eyebrow Retinal thinning Cerebellar cyst Cerebellar dysplasia Dilated fourth ventricle Abnormally large globe Retinal atrophy Abnormality of the periventricular white matter Amblyopia Heterotopia Downturned corners of mouth Broad nasal tip Ankylosis Kyphoscoliosis Thickened calvaria Hallux valgus Nasal speech Widely spaced teeth Clonus Prominent nose Short philtrum Muscular hypotonia of the trunk Joint laxity Narrow mouth Broad thumb Upslanted palpebral fissure Patent ductus arteriosus Unilateral cryptorchidism Diastema Cavum septum pellucidum Volvulus Single umbilical artery Slender finger Low anterior hairline Long eyelashes Muscular dystrophy Carious teeth Vascular calcification Dysgenesis of the cerebellar vermis Twelfth rib hypoplasia Early ossification of capital femoral epiphyses Rhizomelic leg shortening Open operculum Subretinal deposits Small cervical vertebral bodies Rhizomelic arm shortening Dilated third ventricle Cervical spinal canal stenosis Abnormality of the acetabulum Arthritis Proximal femoral metaphyseal irregularity Elongated superior cerebellar peduncle Short digit Renal cortical cysts Duane anomaly Recurrent aspiration pneumonia Long clavicles Hyperechogenic kidneys Abnormal corpus callosum morphology Abnormality of the 5th metacarpal Parkinsonism Colpocephaly Increased serum ferritin Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Edema of the lower limbs Gingival bleeding Osteoarthritis Protuberant abdomen Pathologic fracture Abnormality of coagulation Osteomyelitis Leukocytosis Reduced bone mineral density Spastic paraparesis Meningitis Hepatic fibrosis Anorexia Abnormality of the basal ganglia Redundant neck skin Abnormality of movement Impulsivity Right ventricular dilatation Alacrima Muscle fiber atrophy Recurrent ear infections Achalasia Esophagitis Progressive proximal muscle weakness Adrenal insufficiency Athetosis Gowers sign Abnormal levels of creatine kinase in blood Limb-girdle muscular dystrophy CNS hypomyelination Scapular winging Truncal ataxia Lower limb spasticity Focal-onset seizure Waddling gait Chorea Muscle cramps Intellectual disability, borderline Cerebral white matter atrophy Dilation of lateral ventricles Overfolded helix Chronic lung disease Enlarged cisterna magna Meningocele Bell-shaped thorax Occipital encephalocele Absent septum pellucidum Molar tooth sign on MRI Thoracic hypoplasia Supernumerary nipple Cone-shaped epiphysis Exophoria Increased intracranial pressure Tachypnea Short ribs Renal dysplasia Dandy-Walker malformation Postaxial polydactyly Visual loss Hypospadias Renal insufficiency Brachydactyly Oral aversion



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