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5,382 Possible Causes for Hypoplasia of Dentate Nucleus, Multiperforated Patent Foramen Ovale, Small Hand

  • Adams-Oliver Syndrome Type 5

    Fingers 2-5 on both hands and toes 1-3 of left foot were small with absent nails [Figure 2] and [Figure 3]. Cardiac and neurological examination was normal.[e-ijd.org] Fingers 2-5 on both hands and toes 1-3 of left foot were small with absent nails [Figure 2] and [Figure 3] . Cardiac and neurological examination was normal.[e-ijd.org] Terminal transverse limb defects, including those involving lower legs, feet, hands, fingers, toes, or distal phalanges, short fingers and small toe nails.[medresearch.in]

  • 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] hands and ears, and that has been seen in one family to date.[findzebra.com] The characteristic appearance includes short stature, a small rounded head flattened posteriorly, broadening of the neck, slanting eyes, a flattened nose, small broad hands[diapedia.org]

    Missing: Multiperforated Patent Foramen Ovale
  • Early Infantile Epileptic Encephalopathy Type 2

    hands and feet.[mendelian.co] ]; Small hands; [Feet]; Small feet MUSCLE, SOFT TISSUE: Hypotonia NEUROLOGIC: [Central nervous system]; Seizures, infantile-onset; Hypsarrhythmia; Mental retardation, profound[genome.jp] hands and feet, eye/vision anomalies, and global developmental delay. 6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to[mendelian.co]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or[rarediseases.info.nih.gov] Additional findings include small hands and feet, loose joints, and abnormal sideways curvature of the spine (scoliosis).[rarediseases.org] hands and feet, AND at least two of the following: Low-set ears Widely spaced eyes Small mandible Fifth-digit clinodactyly Syndactyly of toes 2 and 3 B.[ncbi.nlm.nih.gov]

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

    It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity[ncbi.nlm.nih.gov] hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis.[ncbi.nlm.nih.gov] Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • X-Linked Syndromic Mental Retardation Type Armfield

    Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some[malacards.org] hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.[informatics.jax.org] X-linked intellectual disability, Armfield type Definition: A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small[zfin.org]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Sanjad-Sakati Syndrome

    All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[ncbi.nlm.nih.gov] […] bridges, external ear anomalies, small hands and feet, short stature, and learning difficulties [ 6 ].[alliedacademies.org] […] eyes, small hands and feet,mental retardation and learning difficulties, hypoparathyroidism,hypocalcemia, hyperphosphatemia, and low levels of PT c.155-166del This report[alliedacademies.org]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Kenny-Caffey Syndrome Type 1

    hands and feet, hypocalcaemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull[medical-dictionary.thefreedictionary.com] hands * Small feet * Hypoparathyroidism Causes - Kenny-Caffey syndrome- Type 1 Not supplied.[checkorphan.org] All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[unboundmedicine.com]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Prader-Willi Syndrome

    hands and feet, mild dysmorphology, and behavior problems which can be severe.[curlie.org] hands and feet.[ncbi.nlm.nih.gov] Down stated "Her feet and hands remained small and contrasted remarkably with the appendages they terminated.[whonamedit.com]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Scapuloperoneal Spinal Muscular Atrophy

    hand Talipes equinovarus Abnormality of the musculature ... ...[familydiagnosis.com] Clinical hallmarks of SPSMA are muscular atrophy of the shoulders, peroneal and small hand muscles resulting in distal weakness, predominantly of the lower limbs, and pectoral[orpha.net] […] anomalies clubfoot syndrome Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome Short stature-pituitary and cerebellar defects-small sella[orpha.net]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale

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