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14 Possible Causes for Profound Psychomotor Developmental Delay, Progressive Mental Retardation

  • Mental Retardation

    Brachydactyly mental retardation syndrome (BDMR) is an autosomal dominant disorder, caused by haploinsufficiency of histone deacetylase 4 (HDAC4), also on chromosome 2q37.[ncbi.nlm.nih.gov] Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech, psychomotor delay, and postnatal microcephaly.[ncbi.nlm.nih.gov] retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech.[ncbi.nlm.nih.gov]

  • Isolated Congenital Auditory Ossicle Malformation

    […] sensorineural hearing loss, and mental disturbance, although less than one-half of patients are hearing impaired or mentally retarded.[dizziness-and-balance.com] Mental and psychomotor developmental delay was noted. Figure 1 The proband aged 18 months. (A, B) Note facial dysmorphism (see text). (C) He cannot stand unsupported.[jmg.bmj.com] […] features include specific ocular symptoms (pseudotumor of the retina, retinal hyperplasia, hypoplasia and necrosis of the inner layer of the retina, cataracts, phthisis bulbi), progressive[dizziness-and-balance.com]

  • Trisomy 8q

    Página 390 - Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 72, 373-381. ‎[books.google.es] Psychomotor retardation is always severe-to-profound.[lirias.kuleuven.be] retardation Promoter hypermethylation contributes to frequent inactivation of a putative conditional tumor suppressor gene connective tissue growth factor in ovarian cancer[docsplayer.net]

  • Cerebellar Hypoplasia and Atrophy

    retardation, progressive amyotrophy, and slow nerve conduction velocity.[ncbi.nlm.nih.gov] If these babies survive the fetal period, PCH clinically manifests as profound psychomotor retardation, developmental delay, problems with movement, and a variable cerebral[xpertdox.com] Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia B Ben-Zeev 1 , C Hoffman 2 , D Lev 3 , N Watemberg 3[jmg.bmj.com]

  • Oculo-Cerebral Hypopigmentation Syndrome Type Preus

    External Scoliosis Opthalmoplegia-Mental Retardation-Lingua Scrotalis Opthalmoplegia-Myalgia-Tubular Aggregates Opththalmoplegia Optic Ataxia Optic Atrophy Optic Atrophy[people-background-check.com] Elejalde syndrome (5) ischaracterized by profound psychomotor retardation,seizures, hypotonia, generalized hypopigmentation,and silvery hair.[documents.tips] Página 390 - Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 72, 373-381. ‎[books.google.es]

  • Mirhosseini-Holmes-Walton Syndrome

    Gordon AM, Capute AJ, Konigsmark BW (1976): Progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss. Johns Hopkins Med J 138:142-145.[docslide.us] delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia[findzebra.com] […] deficiency, mental retardation, hypotonia, chorioretinal dystrophy, and myopia.[omim.org]

  • ANE Syndrome

    All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal[uniprot.org] Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are ...[kegg.jp] psychomotor retardation.[kegg.jp]

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    New method for genome analysis identifies the genetic effect of a rare disease - Missing protein anchor identified as the cause of mental retardation in Mabry Syndrome The[mpg.de] Definition An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly[uniprot.org] Progressive hydrocephalus may occur. Chronic subdural haematoma are recorded. Older survivors are mentally retarded and stunted.[atulchoube.wordpress.com]

  • Ectodermal Dysplasia - Syndactyly Syndrome

    Página 390 - Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 72, 373-381. ‎[books.google.es] Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are ...[kegg.jp] Clinical Manifestations Progressive arthropathy. Urticarial rash Uveitis and mental retardation. Central nervous system involvement and deafness may occur.[drmhijazy.com]

  • Split Hand-Split Foot Malformation Type 1

    There is no family history of limb malformations, mental retardation, nor hearing loss. At birth, the patient was found to have malformations in all four limbs.[journals.lww.com] Mental and psychomotor developmental delay was noted. Figure 1 The proband aged 18 months. (A, B) Note facial dysmorphism (see text). (C) He cannot stand unsupported.[jmg.bmj.com] Neurodevelopmental progress was age appropriate.[journals.lww.com]

Further symptoms