Cataract, and Muscular hypotonia of the trunk

Diseases related with Cataract and Muscular hypotonia of the trunk

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


Top matches:

Low 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

Low 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

Low match CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency|mitochondrial complex deficiency, combined|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

Low match PEROXISOME BIOGENESIS DISORDER 10B; PBD10B


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

Low match HYPOMYELINATION-CONGENITAL CATARACT SYNDROME


Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROME

Low match WARBURG MICRO SYNDROME 2; WARBM2


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

Low match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA


NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Low match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME


X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


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).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Muscular hypotonia of the trunk

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

Patients with Cataract and Muscular hypotonia of the trunk. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Absent speech

Uncommon Symptoms - Between 30% and 50% cases


Congenital cataract Optic atrophy Hypoplasia of the corpus callosum Scoliosis Ataxia Nystagmus Hyperreflexia Microcephaly Muscle weakness Macrotia Polymicrogyria Cerebellar hypoplasia Flexion contracture Gait ataxia Tremor Intellectual disability, mild Microphthalmia Cerebellar atrophy High forehead

Rare Symptoms - Less than 30% cases


Spastic paraparesis Apraxia Paraparesis Feeding difficulties Spastic paraplegia Motor delay Peripheral neuropathy Dysarthria Mandibular prognathia Delayed speech and language development Babinski sign Abnormal pyramidal sign Titubation Truncal titubation Intellectual disability, severe Short nose Low-set ears Postnatal microcephaly Low anterior hairline Cerebral atrophy Cerebral cortical atrophy Micrognathia Abnormal cerebellum morphology High palate Cognitive impairment Talipes equinovarus Lissencephaly Ptosis Optic nerve hypoplasia Blindness Myopathy Bilateral ptosis Type II lissencephaly Myopia Elevated serum creatine phosphokinase Muscular hypotonia Macroorchidism Progressive spastic paraparesis Bruxism Shuffling gait Slender build Excessive salivation Abnormality of the skeletal system Mania Juvenile cataract Abnormal facial shape Frontal bossing Cardiomyopathy Delayed skeletal maturation Upslanted palpebral fissure Deeply set eye Facial hypotonia Rotary nystagmus Poor coordination Tetraplegia Dystonia Kyphosis Encephalopathy Pneumonia Pes cavus EEG abnormality Genu valgum Paraplegia Small hand Parkinsonism Restlessness Abnormality of extrapyramidal motor function Ventriculomegaly Spastic tetraplegia Psychosis Choreoathetosis Clumsiness Spastic gait Hypertrophic cardiomyopathy Progressive spasticity Drooling Delayed puberty Pectus carinatum Mask-like facies Unsteady gait High, narrow palate Hypopigmentation of the skin Involuntary movements Limb ataxia Poor head control Slurred speech Postural tremor Brisk reflexes Pulmonic stenosis Aniridia Hypoplasia of the iris Hearing abnormality Hypoplasia of the fovea Speech apraxia Abnormality of the pulmonary artery Broad distal phalanx of finger Scanning speech Craniofacial asymmetry Abnormality of movement Synophrys Short neck Hip dysplasia Abnormality of the foot Peripheral axonal neuropathy Long face Distal amyotrophy Inability to walk Increased serum lactate Esotropia Aciduria Absence seizures Neurological speech impairment Abnormality of mitochondrial metabolism Strabismus Visual impairment Downslanted palpebral fissures Anteverted nares Reduced visual acuity Neonatal hypotonia Coloboma Corneal opacity Abnormality of the dentition Central hypoventilation Gait disturbance Decreased motor nerve conduction velocity Severe muscular hypotonia Poor speech Lower limb muscle weakness Polyneuropathy Retinal detachment Intention tremor Leukodystrophy CNS hypomyelination Axonal degeneration Intellectual disability, moderate Axonal loss Onion bulb formation Muscular dystrophy Motor polyneuropathy Lower limb amyotrophy Loss of ability to walk Cerebral hypomyelination Cerebral white matter atrophy Developmental regression Leukoencephalopathy Cryptorchidism Lactic acidosis Infantile axial hypotonia Decreased serum ferritin Abnormal muscle fiber protein expression Progressive sensorineural hearing impairment Posteriorly rotated ears Reduced tendon reflexes Jaundice Progressive hearing impairment Nephrocalcinosis Congenital muscular dystrophy Prolonged neonatal jaundice Inverted nipples Neurogenic bladder Sensorineural hearing impairment Hearing impairment Cerebellar cyst Cerebellar dysplasia Hypoplasia of the pons Progressive cataract Hydrocephalus Macrocephaly Clonus Talipes Delayed myelination Sloping forehead Narrow forehead Hypsarrhythmia Tetraparesis Cerebral visual impairment Progressive microcephaly Narrow palate Abnormality of the cerebral white matter Spastic tetraparesis Plagiocephaly Multiple joint contractures Hypoventilation Central hypotonia Decreased activity of mitochondrial respiratory chain Growth delay Generalized myoclonic seizures Narrow chest Protruding ear Brachycephaly Overlapping toe Micropenis Postnatal growth retardation Prominent nasal bridge Severe global developmental delay Microcornea Abnormal myelination Delayed ability to walk Scrotal hypoplasia Spastic diplegia Proptosis Global brain atrophy Hypoplastic labia majora Asymmetry of the ears Undetectable visual evoked potentials Occipital encephalocele Depressed nasal bridge Skeletal muscle atrophy Hypoplasia of the brainstem Encephalocele Frontal cortical atrophy



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