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961 Possible Causes for Hypoplasia of Dentate Nucleus, Mild to Severe Intellectual Disability, Multiperforated Patent Foramen Ovale

  • Adams-Oliver Syndrome Type 5

    disability-severe speech delay-mild dysmorphism syndrome Glycogen storage disease type 6 Corneal dystrophy Avellino type Noonan syndrome Hereditary vascular retinopathy Loeys-Dietz[checkrare.com] […] thrombocytopenia Autosomal recessive palmoplantar keratoderma and congenital alopecia Mental retardation syndrome, Belgian type Maturity-onset diabetes of the young Lelis syndrome Intellectual[checkrare.com]

  • Helsmoortel-van der Aa Syndrome

    The causative gene in SCA21, TMEM240, is highly expressed in the cerebellum, dentate gyrus, putamen and caudate nucleus.[pediatricneurologybriefs.com] […] to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics.[ncbi.nlm.nih.gov] […] to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements[mendelian.co]

    Missing: Multiperforated Patent Foramen Ovale
  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

    Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements[checkorphan.org] intellectual disability, severely reduced muscle tone ( hypotonia ), impaired reflexes, vision impairment, and involuntary eye movements.[rarediseases.info.nih.gov] Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord. [1] Affected individuals have mild to severe[rarediseases.info.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Autosomal Dominant Mental Retardation Type 21

    The causative gene in SCA21, TMEM240, is highly expressed in the cerebellum, dentate gyrus, putamen and caudate nucleus.[pediatricneurologybriefs.com] disability, moderate Intellectual disability, severe Abnormality of extrapyramidal motor function Clumsiness Limb ataxia Progressive gait ataxia Babinski sign Truncal ataxia[mendelian.co] […] to severe intellectual disability.[rarediseases.org]

    Missing: Multiperforated Patent Foramen Ovale
  • Simpson Dysmorphia Syndrome

    […] to severe intellectual disability.[rarediseases.info.nih.gov] […] to severe intellectual disability .[rarediseases.info.nih.gov] […] protrusion of the lining of the abdomen through the area around the belly button ( umbilical hernia ), and skeletal anomalies. [3] [4] Some people with the condition have a mild[rarediseases.info.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • 2-Aminoadipic 2-Oxoadipic Aciduria

    […] to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder.[orpha.net] Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic.[uniprot.org] 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild[orpha.net]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Cystitis

    […] stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.[ncbi.nlm.nih.gov] Anauxetic dysplasia 2 MedGen UID: 1384439 •Concept ID: C4479357 • Disease or Syndrome Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Chudley-Rozdilsky Syndrome

    […] myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis ), severe intellectual disability, short stature, and sexual[rarediseases.info.nih.gov] Orpha Number: 3068 Definition Intellectual disability -myopathy-short stature -endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive[rarediseases.info.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Oculocerebrorenal Syndrome

    […] to severe intellectual disability, stereotypic hand movements, renal dysfunction of the Fanconi type (proximal tubular acidosis; phosphate wasting leading to renal rickets[orpha.net] […] typically with absence of deep tendon reflexes), stereotypic behavior (temper tantrums, aggressiveness and obsessive compulsive behavior), postnatal growth retardation, mild[orpha.net]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Periodontitis

    The patient had chronic generalized severe periodontitis with pathologic maxillary anterior teeth migration and mild intellectual disability.[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale