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12 Possible Causes for Congenital Onset, Profound Psychomotor Developmental Delay

  • Hyperphosphatasia with Mental Retardation Syndrome 2

    Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech , psychomotor delay, and postnatal microcephaly .[pesquisa.bvsalud.org] Delayed speech and language development Short philtrum Epicanthus Autosomal dominant inheritance Sparse hair Hypoplasia of the corpus callosum Microcephaly Congenital onset[mendelian.co] […] disinhibition dementia , see GRN-related frontotemporal dementia hereditary dystopic lipidosis , see Fabry disease hereditary epithelial dysplasia of retina , see Leber congenital[herenciageneticayenfermedad.blogspot.com]

  • Mental Retardation

    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] However, some metabolic conditions such as phenylketonuria (PKU), galactosemia, and congenital hypothyroidism can be treated before the onset of mental retardation.[cdc.gov] The difference between amentia and dementia was originally defined by time of onset.[en.wikipedia.org]

  • Cerebellar Hypoplasia and Atrophy

    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] onset Encephalopathy Hypoplasia of the pons Muscular dystrophy Ventriculomegaly Polymicrogyria Cerebral atrophy Abnormality of the cerebral white matter Elevated serum creatine[mendelian.co] A diagnostic algorithm presented for adult onset cerebellar ataxias [ 3 ] may overlap with childhood ataxias, but during childhood, congenital and metabolic disorders are[pediatricneurologybriefs.com]

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    Definition An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly[uniprot.org] The clinical course of the condition may involve: 1 Clinical Course of Hyperphosphatasia with mental retardation syndrome type 3 : Congenital onset • • • Back to: « Hyperphosphatasia[familydiagnosis.com] ; delayed onset of presentation (especially after 12 h); and severe hypoxaemia refractory to conventional therapy.[doi.org]

  • Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome

    delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia[ncbi.nlm.nih.gov] onset Bilateral HL, congenital onset, syncopal episodes, sudden death Ataxia, skin rash conjunctivitis, SNHL, optic atrophy, hypertonia, seizures Congenital onset, severe-profound[quizlet.com] 1 Split hand foot malformation 1 Multiple epiphyseal dysplasia 5 Keratosis follicularis dwarfism and cerebral atrophy Giant congenital nevus Vein of Galen aneurysm Refsum[checkrare.com]

  • Ectodermal Dysplasia-Sensorineural Deafness Syndrome

    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] Childhood-onset nemaline myopathy Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Intermediate nemaline myopathy Severe congenital[csbg.cnb.csic.es] In some cases the deafness is congenital. In others there is later onset hearing loss of moderate degree.[genedx.com]

  • Mirhosseini-Holmes-Walton Syndrome

    delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia[findzebra.com] onset Abnormality of cardiovascular system morphology Progressive Abnormal heart morphology Hyperkeratosis Hypertrophic cardiomyopathy Broad forehead Absent eyebrow Glaucoma[mendelian.co] onset Seizures Kyphosis Rare Symptoms - Less than 30% cases Atrial septal defect Downslanted palpebral fissures Sensorineural hearing impairment Leukonychia Epicanthus Wide[mendelian.co]

  • Ectodermal Dysplasia - Cutaneous Syndactyly Syndrome

    Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are ...[kegg.jp] onset Thick nail Absent pubic hair Absent axillary hair Clubbing of toes Abnormal nasolacrimal system morphology Slow-growing hair Alopecia totalis Sparse pubic hair Blepharitis[mendelian.co] Ichthyosiform Erythroderma Bullous Erythroderma Ichthyosiformis Congenita Of Brocq Bullous Ichthyosiform Erythroderma Epidermolytic Hyperkeratosis Epidermolytic Hyperkeratosis, Late-Onset[ukgtn.nhs.uk]

  • Nephrotic Syndrome Type 9

    ., sitting up, crawling, walking, and other developmental milestones) and a profound delay in the attainment of skills requiring the coordination of muscular and mental activity[rarediseases.org] Age-at-onset and specific genes NS that presents at birth or within the first 3 months of life is termed congenital nephrotic syndrome (CNS), while the term infantile nephrotic[ncbi.nlm.nih.gov] The Finnish type congenital nephrotic syndrome is a sub type of congenital nephrotic syndrome.[radiopaedia.org]

  • Thyro-Cerebro-Renal Syndrome

    ., sitting up, crawling, walking, and other developmental milestones) and a profound delay in the attainment of skills requiring the coordination of muscular and mental activity[rarediseases.org] onset CNS hypomyelination Decreased liver function Fasciculations Renal dysplasia Epileptic encephalopathy Pachygyria Delayed myelination Death in infancy Hepatic steatosis[mendelian.co] Degos Disease - Systemic DeSanctis Cacchione Syndrome Dravet Syndrome Early-Onset Alzheimer’s Disease Edwards Syndrome (Trisomy 18) Eisenmenger Syndrome Endometrial Stromal[ssa.gov]

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