Microphthalmia, and Epileptic encephalopathy

Diseases related with Microphthalmia and Epileptic encephalopathy

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

Top matches:

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

EIEE58 is a severe neurodevelopmental disorder characterized by onset of refractory seizures in the first days or months of life. Affected individuals have global developmental delay with intellectual disability, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, and spasticity (summary by Hamdan et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Other less relevant matches:

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

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

Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Is also known as early infantile epileptic encephalopathy with suppression-bursts|ohtahara syndrome|eiee

Related symptoms:

  • Seizures
  • Encephalopathy
  • Generalized myoclonic seizures
  • Focal-onset seizure
  • Epileptic encephalopathy


SOURCES: ORPHANET MENDELIAN

More info about EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Febrile seizures
  • Epileptic encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19

Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years, whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2 gene can also cause childhood absence epilepsy (ECA2 ).Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3 Is also known as gefs+3|gefs+, type 3

Related symptoms:

  • Seizures
  • Encephalopathy
  • Myoclonus
  • Generalized tonic-clonic seizures
  • Focal-onset seizure


SOURCES: OMIM MESH MENDELIAN

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3

Top 5 symptoms//phenotypes associated to Microphthalmia and Epileptic encephalopathy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microphthalmia and Epileptic encephalopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Coloboma Febrile seizures Motor delay Growth delay Intellectual disability, severe Generalized tonic-clonic seizures Optic atrophy Absent speech Postnatal microcephaly Ventriculomegaly Optic nerve hypoplasia Nystagmus Short stature Absence seizures Strabismus Spasticity

Rare Symptoms - Less than 30% cases

Iris coloboma Spastic diplegia Feeding difficulties Focal-onset seizure EEG abnormality Cerebral atrophy Inability to walk Status epilepticus Hemiclonic seizures Stereotypy Low-set ears Infantile spasms Muscular hypotonia Delayed speech and language development Depressed nasal bridge Downslanted palpebral fissures Generalized myoclonic seizures Myoclonus Everted lower lip vermilion Plagiocephaly Autism Autistic behavior Short philtrum Hyperactivity Atonic seizures Micrognathia Micropenis Muscular hypotonia of the trunk Intellectual disability, moderate Postnatal growth retardation Epicanthus High palate Broad nasal tip Long philtrum Short nose Hypsarrhythmia Scoliosis Abnormal facial shape Hypertelorism Hypertonia Hearing impairment Hyperreflexia Macrotia Low-set, posteriorly rotated ears Feeding difficulties in infancy Progressive microcephaly Pes planus Hyperlordosis Abnormal pyramidal sign Pectus carinatum Severe global developmental delay Congenital cataract Talipes Peripheral axonal neuropathy Polymicrogyria Joint laxity Severe short stature Cerebral cortical atrophy Congestive heart failure Cataract Cryptorchidism Flexion contracture Peripheral neuropathy Abnormality of the skeletal system Talipes equinovarus Cardiomyopathy Malar flattening Brachycephaly Midface retrusion Pectus excavatum Hyporeflexia Recurrent respiratory infections Polyneuropathy Posteriorly rotated ears Hypogonadism Short palm Short phalanx of finger Microcornea Furrowed tongue Ulnar deviation of finger Thoracic scoliosis Tracheomalacia Abnormality of the antihelix Abnormal toenail morphology Misalignment of teeth Talipes valgus Metatarsus adductus Abnormality of the distal phalanx of finger Osteopathia striata Broad fingertip Prominent antitragus Prominent nipples Slender ulna Epileptic spasms Prematurely aged appearance Bilateral cryptorchidism Hypoplasia of the maxilla Short toe Short metacarpal Growth hormone deficiency Hypotelorism Lumbar hyperlordosis Low posterior hairline Reduced dihydropyrimidine dehydrogenase activity Clonus Epiphyseal dysplasia Cardiac arrest Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Knee flexion contracture Intellectual disability, progressive Abnormal dermatoglyphics Abnormality of the hand Uraciluria Spastic tetraplegia Recurrent aspiration pneumonia Toe syndactyly Wide nasal bridge High forehead Deeply set eye Protruding ear Attention deficit hyperactivity disorder Broad forehead Thick eyebrow Upslanted palpebral fissure Downturned corners of mouth Pain Short foot Cleft palate Convex nasal ridge Open mouth Short neck Dilatation Heterotopia Visual impairment Abnormally large globe Overlapping fingers Dilated fourth ventricle Oval face Macrogyria Decreased body weight Difficulty walking Hypoplasia of the corpus callosum Optic disc pallor Delayed myelination Prominent nasal bridge Pallor Cerebellar hypoplasia Brachydactyly Anteverted nares Broad-based gait Short chin Stomatitis Hypohidrosis Alopecia Pneumonia Agenesis of corpus callosum Weight loss Lethargy Tetraplegia Aspiration Diarrhea Leukopenia Delayed gross motor development Breast carcinoma Hypoventilation Aspiration pneumonia Diffuse cerebral atrophy Thrombocytopenia Fever Muscle weakness Periventricular leukomalacia Tented upper lip vermilion Cupped ear Poor eye contact Abnormality of the periventricular white matter Sensorineural hearing impairment Agenesis of cerebellar vermis Abnormal corpus callosum morphology Hepatomegaly Abnormality of nervous system morphology Happy demeanor Frontal cortical atrophy Periventricular white matter hyperdensities Ataxia Neoplasm Failure to thrive Large earlobe


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