Intellectual disability, severe, and Microcornea

Diseases related with Intellectual disability, severe and Microcornea

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

Top matches:

WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Other less relevant matches:

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

High 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

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

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

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY 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

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Microcornea

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microphthalmia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Cataract Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Microcornea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Ptosis

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Congenital cataract

Uncommon Symptoms - Between 30% and 50% cases

Micropenis

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Spasticity Spastic diplegia High palate Hypoplasia of the corpus callosum Coloboma Micrognathia Macrotia Abnormality of the skeletal system Kyphosis Hearing impairment Hypogonadism Cerebral cortical atrophy Kyphoscoliosis Deeply set eye Visual impairment Abnormal facial shape Short nose Muscular hypotonia of the trunk Brachycephaly Postnatal microcephaly Polymicrogyria Muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Hydronephrosis Tetraplegia Low anterior hairline Scrotal hypoplasia Glaucoma Failure to thrive Cerebellar atrophy Muscle weakness Cerebral atrophy Severe short stature Narrow mouth Postnatal growth retardation Agenesis of corpus callosum Scoliosis Clinodactyly of the 5th finger Ventriculomegaly External genital hypoplasia Cortical dysplasia Hypertrichosis Peripheral neuropathy Growth delay

Rare Symptoms - Less than 30% cases

Decreased testicular size Pachygyria Low-set, posteriorly rotated ears Gait ataxia Intellectual disability, profound Spastic tetraplegia Frontoparietal polymicrogyria Autism Cerebellar vermis hypoplasia Intrauterine growth retardation Wide nasal bridge Clitoral hypoplasia Hypoplastic labia minora Pes planus Dilatation Cleft palate Epicanthus Brachydactyly Low-set ears Dental crowding Bilateral cryptorchidism Progressive muscle weakness Convex nasal ridge Brain atrophy Chorioretinal coloboma Corneal opacity Cerebellar hypoplasia Long philtrum Hypertonia Motor delay Cerebral visual impairment Hip dislocation Hypoplasia of teeth Neurological speech impairment Muscle stiffness Abnormality of the pinna Osteoporosis Sensorineural hearing impairment Strabismus Ataxia Absent speech Retinal coloboma Iris coloboma Abnormality of visual evoked potentials Intellectual disability, moderate Prominent nasal bridge Anophthalmia Oral cleft Myopia Overlapping toe Posteriorly rotated ears Astigmatism Synophrys Hypermetropia Proboscis Upslanted palpebral fissure Pigmentary retinopathy Talipes equinovarus Downslanted palpebral fissures Severe global developmental delay Hypertelorism Anteverted nares Depressed nasal bridge Macrocephaly Pectus carinatum Lop ear Sclerocornea Profound global developmental delay Short metacarpal Progressive cerebellar ataxia Colpocephaly Dyskinesia Short upper lip Lens luxation Short palm Scleral staphyloma Rigidity Short 2nd toe Posterior staphyloma Dysarthria Smooth philtrum Muscular dystrophy Skeletal muscle atrophy Self-mutilation Recurrent infections Areflexia Hyporeflexia Down-sloping shoulders Abnormality of the clavicle Elevated serum creatine phosphokinase Myopathy Bowing of the legs Misalignment of teeth Thick lower lip vermilion Long thorax Mental deterioration Dolichocephaly Facial asymmetry Joint hyperflexibility Long face Complete duplication of thumb phalanx Abnormality of the shoulder Highly arched eyebrow Prominent nose Esotropia Renal agenesis Progressive visual loss Bilateral sensorineural hearing impairment Ankyloblepharon Neurogenic bladder Short toe Short chin Aortic regurgitation Abnormal palate morphology Abnormal palmar dermatoglyphics Genu varum Relative macrocephaly Rectal prolapse Aortic aneurysm Unilateral renal agenesis Hip dysplasia Congenital nystagmus Shield chest Optic nerve coloboma Decreased antibody level in blood Hypergonadotropic hypogonadism Specific learning disability Bicuspid aortic valve Lumbar hyperlordosis Renal hypoplasia Recurrent otitis media Aganglionic megacolon Preauricular skin tag Joint contracture of the hand Renal hypoplasia/aplasia Webbed neck Pyloric stenosis Syndactyly Abnormality of the dentition Blindness Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Wide intermamillary distance Delayed eruption of teeth Self-injurious behavior Toe syndactyly Hyperlordosis Camptodactyly Aggressive behavior Camptodactyly of finger Finger syndactyly Narrow chest Anal atresia Abnormality of cardiovascular system morphology Clinodactyly Cleft upper lip Pulmonary hypoplasia Pectus excavatum Hypospadias High, narrow palate Abnormal lactate dehydrogenase activity Overfolded helix Limb ataxia Infantile muscular hypotonia Agenesis of permanent teeth Cubitus valgus Short metatarsal Short clavicles Dysphonia Abnormality of the metacarpal bones Sandal gap Congenital muscular dystrophy Type I diabetes mellitus Coxa valga External ear malformation Autistic behavior Sensorimotor neuropathy Short thumb Hydroureter Radial deviation of finger Metatarsus valgus Avascular necrosis of the capital femoral epiphysis Abnormal levels of creatine kinase in blood Clubbing Abnormality of the cerebellar vermis Muscle flaccidity Muscle fiber necrosis Autophagic vacuoles Agenesis of maxillary lateral incisor Myopathic facies Proximal placement of thumb Abnormality of dental morphology Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles Cerebellar cortical atrophy Abnormal auditory evoked potentials Telecanthus Labial hypoplasia Hypoplasia of the fovea Retinal dysplasia Central hypothyroidism Ectopic posterior pituitary Mandibular aplasia Macular scar Aglossia Myopic astigmatism Blepharophimosis Peripheral axonal neuropathy Downturned corners of mouth Generalized myoclonic seizures Narrow palate Ankle clonus Shallow anterior chamber Posterior embryotoxon Lissencephaly Hypertension Upper limb spasticity Abnormal localization of kidney Severe postnatal growth retardation Cerebellar vermis atrophy Decreased muscle mass Generalized hirsutism Joint stiffness Abnormality of retinal pigmentation Hypoplasia of penis Abnormal cerebellum morphology Hirsutism Delayed puberty Short philtrum Microglossia Short middle phalanx of finger Tremor Narrow forehead Absent thumb Trigonocephaly Deep philtrum Holoprosencephaly Exotropia Hypotelorism Broad forehead Facial cleft Midface retrusion Hydrocephalus Undetectable visual evoked potentials Asymmetry of the ears Hypoplastic labia majora Global brain atrophy Abnormality of digit Scaphocephaly Optic nerve hypoplasia Joint laxity Arnold-Chiari malformation Microretrognathia Hypoplasia of the maxilla Retinal dystrophy Retinopathy Scarring Photophobia Single median maxillary incisor Hypothyroidism Respiratory distress Respiratory insufficiency Exencephaly Small posterior fossa Cyclopia Hepatomegaly Splenomegaly Coarse facial features Neonatal hypotonia Spastic tetraparesis Tetraparesis Short palpebral fissure Delayed myelination Joint hypermobility Arthrogryposis multiplex congenita Retrognathia Hyperextensible skin Hyperreflexia Cerebellar calcifications Subcortical white matter calcifications Patchy demyelination of subcortical white matter Abnormal peripheral myelination Ivory epiphyses of the phalanges of the hand Cerebral palsy Neurodevelopmental delay Peripheral dysmyelination Frontal bossing Abnormal heart morphology Patent ductus arteriosus Intellectual disability, mild Congestive heart failure Atrial septal defect Ventricular septal defect Microphakia Enlarged cisterna magna Facial hypertrichosis Posterior synechiae of the anterior chamber Posterior uveitis Hyperglycinuria Anteverted ears Abnormal pupil morphology Square pelvis bone Slender nose Renal insufficiency Abnormality of skin pigmentation Opacification of the corneal stroma Abnormality of the hair Cutaneous photosensitivity Dental malocclusion Limitation of joint mobility Polyneuropathy Dry skin Decreased nerve conduction velocity Carious teeth Small for gestational age Sparse hair Proteinuria Mandibular prognathia Arrhythmia Dermal atrophy Anhidrosis Severe photosensitivity Hypoplastic pelvis Increased cellular sensitivity to UV light Normal pressure hydrocephalus Loss of facial adipose tissue Decreased lacrimation Delayed eruption of primary teeth Dry hair Hypoplastic iliac wing Reduced subcutaneous adipose tissue Progeroid facial appearance Atypical scarring of skin Severe failure to thrive Hypoplasia of the iris Basal ganglia calcification Thickened calvaria Ciliary body coloboma


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