Hyperreflexia, and Microcornea

Diseases related with Hyperreflexia and Microcornea

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


Top matches:

Medium 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

Medium match WARBURG MICRO SYNDROME 1; WARBM1


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). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

Medium match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1


Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

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Other less relevant matches:

Medium match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

Medium match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Medium match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Medium match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Medium match SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1


SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Medium match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Medium match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Microcornea

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

Patients with Hyperreflexia and Microcornea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Congenital cataract

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Hypogonadism

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, severe Kyphoscoliosis Strabismus Nystagmus Peripheral neuropathy Cerebral cortical atrophy Hyporeflexia Abnormality of the skeletal system Epicanthus Abnormal facial shape Cerebral atrophy Severe short stature Deeply set eye Spastic diplegia Muscular hypotonia Scoliosis Spasticity Pes planus Brachycephaly Ptosis Polymicrogyria Myopia Hypertelorism Motor delay Myopathy Skeletal muscle atrophy Cleft upper lip Brachydactyly Cleft palate Cerebellar hypoplasia Osteoporosis Posteriorly rotated ears Talipes equinovarus Upslanted palpebral fissure Glaucoma Ataxia Cognitive impairment Areflexia Hypergonadotropic hypogonadism Low-set ears Pectus carinatum Hearing impairment Midface retrusion High palate Short nose Micropenis External genital hypoplasia Decreased testicular size Blepharophimosis Muscular hypotonia of the trunk Clinodactyly of the 5th finger Hypertrichosis Hypoplasia of the corpus callosum Postnatal microcephaly Cryptorchidism

Rare Symptoms - Less than 30% cases


Dysarthria Hypotelorism Peripheral axonal neuropathy Macrotia Talipes valgus Gait disturbance Rigidity Visual impairment Tetraplegia Lumbar hyperlordosis Postnatal growth retardation Talipes Short metacarpal Muscular dystrophy Fragile nails Trichorrhexis nodosa Depressed nasal bridge Cerebellar vermis hypoplasia Intellectual disability, profound Malar flattening Intellectual disability, moderate Polyneuropathy Feeding difficulties in infancy Abnormal pyramidal sign Short philtrum Blindness Short palm Coxa valga Anteverted nares Mandibular prognathia Abnormality of the dentition Mild global developmental delay Abnormal lactate dehydrogenase activity Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Taurodontia Retinal dysplasia Congenital muscular dystrophy Cubitus valgus Specific learning disability Intrauterine growth retardation Frontal bossing Retinal detachment Elevated serum creatine phosphokinase Proptosis Aplasia/Hypoplasia involving the skeletal musculature Hand polydactyly Abnormality of cardiovascular system morphology Camptodactyly of finger Malignant hyperthermia Brittle hair Umbilical hernia Hypoglycemia Conductive hearing impairment Camptodactyly Hip dislocation Abnormal aldolase level Abnormality of the cerebral white matter Toe syndactyly Paresthesia Flat face Abnormal form of the vertebral bodies Kyphosis Fever Hyperactive deep tendon reflexes Hypogonadotrophic hypogonadism Dysphonia Corneal opacity Agenesis of corpus callosum Fine hair Neurological speech impairment Synophrys Decreased antibody level in blood Delayed speech and language development Severe global developmental delay Sparse hair Tetraparesis Protruding ear Coloboma Recurrent infections Bilateral cryptorchidism Cortical dysplasia Babinski sign Narrow mouth Short palpebral fissure Retrognathia Pachygyria Failure to thrive Long philtrum Spastic tetraparesis Hypertonia Cerebellar atrophy Wide nasal bridge Progressive muscle weakness Type I diabetes mellitus Hypoplastic male external genitalia Sensorimotor neuropathy Chorioretinal dysplasia Decreased motor nerve conduction velocity Axonal degeneration Thick cerebral cortex Dyskinesia Muscle stiffness Tremor Intellectual disability, mild Secondary amenorrhea Primary amenorrhea Proximal muscle weakness Pes cavus Progressive cerebellar ataxia Split hand Hip dysplasia Long eyelashes Intention tremor Interphalangeal joint contracture of finger CNS hypomyelination Amenorrhea Macrogyria Myalgia Chorea Limb ataxia Sensory neuropathy Postural tremor Short thumb Small hand Dysmetria Peripheral demyelination Excessive daytime sleepiness Severe hydrocephalus Renal dysplasia Abnormality of neuronal migration Hypoplasia of the brainstem Anophthalmia Congenital contracture Atresia of the external auditory canal Optic nerve hypoplasia Lissencephaly Severe muscular hypotonia Heterotopia Absent septum pellucidum Encephalocele Hypoplasia of penis Infantile muscular hypotonia Sandal gap Dandy-Walker malformation Bifid uvula Retinal dystrophy Iris coloboma Oral cleft Congenital glaucoma Occipital encephalocele Rimmed vacuoles Short metatarsal Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Agyria Cerebellar cyst Type II lissencephaly Myopathic facies Cerebellar dysplasia Abnormality of the metacarpal bones Submucous cleft hard palate Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Abnormal cortical gyration Bilateral cleft lip Megalocornea Retinal atrophy Smooth philtrum Myoglobinuria Gait ataxia Decreased fetal movement Hip contracture Delayed puberty High pitched voice Skeletal muscle hypertrophy Sleep disturbance Myotonia Overfolded helix Autophagic vacuoles Metaphyseal widening Sleep apnea Blepharospasm Hypertriglyceridemia Narrow palpebral fissure Open mouth Coxa vara Stereotypy Hoarse voice Muscle fiber necrosis Hypercholesterolemia Aplasia/Hypoplasia of the corpus callosum Generalized hirsutism Broad forehead Constrictive median neuropathy Renal hypoplasia/aplasia Anxiety Gastroesophageal reflux Hypothyroidism Constipation Obesity Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Shoulder flexion contracture Coronal cleft vertebrae Pursed lips Joint stiffness Percussion myotonia Temperature instability Flexion contracture of toe Spinal deformities Weak voice Attention deficit hyperactivity disorder Wrist flexion contracture Hypoplasia of the musculature EMG abnormality Congenital hip dislocation Rhabdomyolysis Abnormal localization of kidney Muscle flaccidity Abnormality of finger Centrally nucleated skeletal muscle fibers Failure to thrive in infancy Chronic otitis media Self-injurious behavior Impaired pain sensation Abnormality of the ureter Motor polyneuropathy Abnormality of peripheral nerve conduction Recurrent myoglobinuria Decreased serum estradiol Large face Delayed eruption of primary teeth Motor axonal neuropathy Hyperacusis Genu recurvatum Abnormal tracheobronchial morphology EEG abnormality Axonal loss Corticospinal tract hypoplasia Abnormality of the cervical spine Malar prominence Tented upper lip vermilion Skeletal dysplasia Precocious puberty Abnormal autonomic nervous system physiology Elbow flexion contracture Joint contracture of the hand Bowing of the long bones Full cheeks Avascular necrosis of the capital femoral epiphysis Recurrent fractures Platyspondyly Apnea Osteopenia Upper limb postural tremor Hyperhidrosis Delayed skeletal maturation Inguinal hernia Respiratory distress Short neck Dysphagia Hypertension Pain Peripheral hypomyelination Acute rhabdomyolysis Anal atresia Hypoplasia of dental enamel Microtia Keratoconjunctivitis sicca Abnormality of hair texture Titubation Corneal neovascularization Congenital nonbullous ichthyosiform erythroderma Pili torti Woolly hair Progeroid facial appearance IgG deficiency Alopecia of scalp Congenital ichthyosiform erythroderma Tiger tail banding Freckling Decreased fertility Basal cell carcinoma Squamous cell carcinoma Intestinal obstruction Erythroderma Abnormality of the thorax Macular degeneration Increased bone mineral density Jerky ocular pursuit movements Lack of subcutaneous fatty tissue Chronic diarrhea Growth hormone deficiency Abnormality of the hand Abnormal dermatoglyphics Intellectual disability, progressive Knee flexion contracture Cardiac arrest Clonus Short toe Short phalanx of finger Low posterior hairline Broad nasal tip Downslanted palpebral fissures Hypoplasia of the maxilla Everted lower lip vermilion Hyperlordosis Low-set, posteriorly rotated ears Joint laxity Recurrent respiratory infections Encephalopathy Pectus excavatum Congestive heart failure Cardiomyopathy Telangiectasia Abnormality of the face Metatarsus adductus Frontoparietal polymicrogyria Hyperextensible skin Cerebral palsy Cerebral visual impairment Convex nasal ridge Delayed myelination Brain atrophy Joint hypermobility Arthrogryposis multiplex congenita Neonatal hypotonia Hypoplastic labia minora Neurodevelopmental delay Shallow anterior chamber Clitoral hypoplasia Labial hypoplasia Ankle clonus Scrotal hypoplasia Narrow palate Low anterior hairline Spastic tetraplegia Generalized myoclonic seizures Downturned corners of mouth Overlapping toe Enlarged cisterna magna Cutaneous photosensitivity Photophobia Small nail Eczema Nail dysplasia Asthma Ichthyosis Dry skin Malabsorption Nail dystrophy Small for gestational age Hyperkeratosis Retinal coloboma Pneumonia Alopecia Neoplasm Microphakia Facial hypertrichosis Posterior synechiae of the anterior chamber Posterior uveitis Hyperglycinuria Anteverted ears Abnormal pupil morphology Epiphyseal dysplasia Prematurely aged appearance Retinopathy Hypoparathyroidism Short middle phalanx of the 5th finger Dry hair Slow-growing hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Low hanging columella Abnormality of the clavicle Narrow nose Selective tooth agenesis Median cleft lip External ear malformation Premature loss of teeth Curly hair Basal ganglia calcification Metaphyseal dysplasia High hypermetropia Narrow nasal bridge Progressive spasticity Abnormality of the ear Broad columella Pseudohypoparathyroidism Hyperostosis Tooth abscess Cleft lip Hydronephrosis Dilatation Hydrocephalus Macrocephaly Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology 3-4 toe syndactyly Premature loss of primary teeth Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Non-midline cleft lip Preaxial hand polydactyly Ulnar deviation of finger Slender ulna High forehead Polydactyly Arrhythmia Visual loss Clinodactyly Syndactyly Edema Atrial septal defect Ventricular septal defect Prominent nipples Abnormality of the eye Prominent antitragus Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Furrowed tongue Misalignment of teeth Abnormal toenail morphology Abnormality of the antihelix Tracheomalacia Thoracic scoliosis Abnormality of the nervous system Abnormality of the pinna Aplasia/Hypoplasia of the cerebellum Lymphedema Preaxial polydactyly Bilateral ptosis Reduced number of teeth Abnormality of vision Abnormality of the fingernails Abnormality of dental enamel Spastic paraparesis Paraparesis Abnormality of the nail Dental crowding Finger syndactyly Abnormality of the metaphysis Cerebral calcification Overgrowth Microdontia Underdeveloped nasal alae Palmoplantar keratoderma Paraplegia Carious teeth Hypotrichosis Spastic paraplegia Cerebellar cortical atrophy



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