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975 Possible Causes for Variable Developmental Delay

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    developmental delay.[malacards.org] (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable[malacards.org]

  • Vitamin B12 Deficiency

    Restoration of developmental skills after therapy was variable, with at least two cases reporting ongoing delays [ 9, 12 ], and one reporting developmental recovery [ 11 ][ncbi.nlm.nih.gov] Four case studies from the United States described lethargy, irritability, and developmental delay among exclusively breastfed infants (ages 6 to 10 months) of vegan or vegetarian[ncbi.nlm.nih.gov]

  • Obesity

    Copy number variation (CNV) has been associated with a variety of neuropsychiatric disorders, including intellectual disability/developmental delay (ID/DD), autism spectrum[ncbi.nlm.nih.gov] Often, individuals carrying the same pathogenic CNV display high clinical variability.[ncbi.nlm.nih.gov]

  • Constitutional Megaloblastic Anemia due to Folate Metabolism Disorder

    Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning[malacards.org] , ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms[ncbi.nlm.nih.gov] […] neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties[malacards.org]

  • Anxiety Disorder

    The 3q13.31 microdeletion syndrome (OMIM #615433) has been defined as a genomic disorder mainly characterized by developmental delay, postnatal overgrowth, hypotonia, genital[ncbi.nlm.nih.gov] Although the 3q13.31 CNVs are variable in size, a 3.4 Mb recurrently altered region at 3q13.2-q13.31 has been recently described and non-allelic homologous recombination ([ncbi.nlm.nih.gov]

  • Tarsal Tunnel Syndrome

    delay and intellectual disabilities.[rarediseases.org] There is a wide variability in severity of this condition, even among members of the same family.[rarediseases.org] X-linked Opitz G/BBB syndrome is a rare genetic disorder characterized by facial anomalies, respiratory and genitourinary abnormalities and other midline defects as well as developmental[rarediseases.org]

  • Pallister-Killian Syndrome

    Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia[ncbi.nlm.nih.gov] Abstract Pallister-Killian syndrome is a multisystem sporadic genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment[ncbi.nlm.nih.gov] Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment,[ncbi.nlm.nih.gov]

  • Dihydrofolate Reductase Deficiency

    Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning[malacards.org] […] neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy ({1:Banka et al., 2011}) to childhood absence epilepsy with learning difficulties[diseaseinfosearch.org] […] metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized[malacards.org]

  • Pseudohypoparathyroidism Type 1A

    AHO is characterized by short stature, obesity, round face with flat nasal bridge, brachydactyly, subcutaneous ossification and possible / variable developmental delay.[hopkinsmedicine.org] Developmental delay is highly variable, even in families with the same mutation.[orpha.net]

  • 17q11 Microdeletion Syndrome

    In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas[malacards.org] Characteristics of the patients with RNF135 mutations included overgrowth, distinct facial features, developmental delay and other variable features including deafness, eye[bionews.org.uk]

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