Global developmental delay, and Blindness

Diseases related with Global developmental delay and Blindness

In the following list you will find some of the most common rare diseases related to Global developmental delay and Blindness that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 51; RP51

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 11; LCA11

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Spasticity
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19

Other less relevant matches:

High match IMINOGLYCINURIA

Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Spasticity
  • Blindness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMINOGLYCINURIA

ACHROMATOPSIA 3; ACHM3 Is also known as total colorblindness with myopia|rod monochromatism 1, formerly|achm1, formerly|rod monochromacy 1, formerly|rmch1, formerly|pingelapese blindness|achromatopsia with myopia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Cataract
  • Myopia


SOURCES: OMIM MENDELIAN

More info about ACHROMATOPSIA 3; ACHM3

BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Brachydactyly
  • Blindness
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 3; BBS3

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MICROCEPHALY-SEIZURES-CORTICAL BLINDNESS-DEVELOPMENTAL DELAY SYNDROME

High match PIERSON SYNDROME

Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome|microcoria-congenital nephrosis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PIERSON SYNDROME

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Visual impairment
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 80; RP80

IECEE2 is a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2

Top 5 symptoms//phenotypes associated to Global developmental delay and Blindness

Symptoms // Phenotype % cases
Visual impairment Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Blindness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Photophobia Nyctalopia Cerebral visual impairment Visual loss Microcephaly Rod-cone dystrophy

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Hearing impairment Encephalopathy Polydactyly Severe vision loss Retinopathy Neurodevelopmental delay Retinal dystrophy Seizures Short stature Renal insufficiency Pendular nystagmus High hypermetropia High myopia Cataract Hypermetropia Myopia Congenital blindness Proteinuria Hypoplasia of the iris Microcoria Lenticonus Congenital nephrotic syndrome Diffuse mesangial sclerosis Buphthalmos Hypoproteinemia Postnatal microcephaly Hypsarrhythmia Abnormality of the nervous system Areflexia Epileptic encephalopathy Severe muscular hypotonia Nephrotic syndrome Brisk reflexes Stage 5 chronic kidney disease Posterior lenticonus Progressive visual loss Hypoplasia of the ciliary body Absent speech Abnormality of the cerebral white matter Dyskinesia Generalized tonic-clonic seizures Lethargy EEG abnormality Difficulty walking Edema Congenital microcephaly Dystonia Febrile seizures Delayed speech and language development Feeding difficulties Ataxia Cone-shaped epiphyses of the phalanges of the hand Macular atrophy Progressive hearing impairment Inability to walk Hypopigmentation of the skin Myoclonus Horizontal pendular nystagmus Muscular hypotonia Ventriculomegaly Hypophosphatemia Nephrolithiasis Aciduria Severe global developmental delay Abnormality of the eye Cortical gyral simplification Decreased body weight Delayed myelination Failure to thrive Cystinuria Retinal pigment epithelial mottling Keratoconus Abnormal light- and dark-adapted electroretinogram Bone spicule pigmentation of the retina Attenuation of retinal blood vessels Macular degeneration Pallor Reduced visual acuity Progressive encephalopathy Hyperglycinuria Poor speech Brachydactyly Optic atrophy Unilateral renal hypoplasia External genital hypoplasia Tricuspid regurgitation Renal hypoplasia Pigmentary retinopathy Postaxial polydactyly Obesity Cognitive impairment Hydroxyprolinuria Monochromacy Achromatopsia Tapetoretinal degeneration Hypoplasia of the fovea Dyschromatopsia Small hand Hyperornithinemia Prolinuria Limb myoclonus


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