Generalized hypotonia, and Microphthalmia

Diseases related with Generalized hypotonia and Microphthalmia

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


Top matches:

High match CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY


Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012).Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).

CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY Is also known as copoa|sclerocornea with other ocular anomalies|corneal opacification with other ocular anomalies|ccmco

Related symptoms:

  • Generalized hypotonia
  • Cataract
  • Microphthalmia
  • Glaucoma
  • Corneal opacity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Manzini et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ventriculomegaly
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8

High match LISSENCEPHALY 8; LIS8


Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 8; LIS8

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Other less relevant matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

High match MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20

High match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

High match COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD


Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

High match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Microphthalmia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases
Lissencephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Generalized hypotonia and Microphthalmia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myopia Elevated serum creatine phosphokinase Congenital muscular dystrophy Muscular dystrophy Hydrocephalus Ventriculomegaly Type II lissencephaly Microcephaly Polymicrogyria Intellectual disability, profound Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Absent speech Severe muscular hypotonia Muscular hypotonia Corneal opacity Cerebellar cyst

Rare Symptoms - Less than 30% cases


Macrocephaly Dilatation Hypoplasia of the brainstem Coloboma Abnormality of the cerebral white matter High myopia Blindness Optic nerve hypoplasia Agyria Feeding difficulties Severe global developmental delay Strabismus Cerebellar dysplasia Hypoplasia of the pons Retinal detachment Frontal bossing Myopathy Spasticity Sclerocornea Buphthalmos Seizures Microcornea Glaucoma Albinism Retinal dystrophy Poor head control Holoprosencephaly Leukodystrophy Cerebellar vermis hypoplasia Ventricular hypertrophy Pachygyria Left ventricular hypertrophy Cerebral calcification Aqueductal stenosis Premature graying of hair Congenital cataract Respiratory failure Hypertelorism Intellectual disability, severe Generalized hypopigmentation Blue irides Osteopetrosis Congenital sensorineural hearing impairment Preauricular pit Shallow orbits Dandy-Walker malformation Abnormality of skin pigmentation Abnormal facial shape Motor delay Underdeveloped nasal alae Delayed myelination Postnatal microcephaly Metabolic acidosis Bulbous nose Hepatic failure Lactic acidosis Infantile muscular hypotonia Tented upper lip vermilion Adducted thumb High forehead Respiratory insufficiency High palate Respiratory distress Acidosis Hyporeflexia Long philtrum Short nose Dystonia Anteverted nares Downslanted palpebral fissures Epicanthus Depressed nasal bridge Aciduria Sparse hair Intrauterine growth retardation Telecanthus Optic atrophy Aggressive behavior Hyperactivity Short stature Leukoencephalopathy Cognitive impairment Muscle weakness Abnormal myelination Delayed ability to walk Occipital encephalocele Encephalocele Generalized myoclonic seizures Talipes equinovarus Retinal dysplasia Neurological speech impairment Flat cornea Polycoria Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Ectopia pupillae Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Congenital glaucoma Ectopia lentis Abnormality of the outer ear Attention deficit hyperactivity disorder Abnormality of the foot Posteriorly rotated ears Tachycardia Sensorineural hearing impairment Micrognathia Hearing impairment Hyperpigmented streaks Histiocytoid cardiomyopathy Lacrimal duct atresia Cavum septum pellucidum Dilation of lateral ventricles Pericardial effusion Ventricular fibrillation Ventricular tachycardia Cardiac arrest Dilated cardiomyopathy Poor speech Agenesis of corpus callosum Cardiomyopathy Failure to thrive Nystagmus Growth delay Small cerebral cortex Hyperechogenic kidneys Cortical gyral simplification Delayed gross motor development Spastic tetraparesis Tetraparesis Renal hypoplasia Severe hydrocephalus



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