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221 Possible Causes for Mental Retardation in Type 2A

  • Generalized Epilepsy with Febrile Seizures Plus

    retardation), full gene sequence EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease [laforin]) (eg, progressive myoclonus epilepsy), full gene sequence Under[bcidaho.com] […] progressive myoclonus epilepsy), full gene sequence Under CPT code 81404: ARX (aristaless related homeobox) (eg, X-linked lissencephaly with ambiguous genitalia, X-linked mental[bcidaho.com]

  • Dilated Cardiomyopathy Type 2B

    Mental retardation, autosomal dominant 11 614257 602879 EPM2A 6q24.3 Epilepsy, progressive myoclonic 2A (Lafora) 254780 607566 Autosomal recessive ERBB3 12q13.2 Lethal congenital[mnglabs.com] Cardiomyopathy, hypertrophic, 19 613875 611414 Autosomal dominant CAMTA1 1p36.31-p36.23 Cerebellar ataxia, nonprogressive, with mental retardation 614756 611501 Autosomal[mnglabs.com] […] dominant CAPN3 15q15.1 Muscular dystrophy, limb-girdle, type 2A 253600 114240 Autosomal recessive CARD14 17q25.3 Psoriasis 2 602723 607211 Autosomal dominant CARD14 17q25.3[mnglabs.com]

  • Erythroderma Desquamativum

    retardation trisomy 17q22 Chromosome 17 BOR2 Lafora body disorder Desquamation of newborn pcarp Duplication 17q Erb type Muscular dystrophy Posterior column ataxia and Branchio-skeleto-genital[yumpu.com] […] syndrome limb girdle type 2A type 1 Lamellar ichthyosis retinitis pigmentosa Trisomy 18pter Brazilian type Acheiropody Erb-Goldflam syndrome Lamellar exfoliation of newborn[yumpu.com] […] contiguous gene syndrome Lafora disease Lamellar ichthyosis and 3rd toes Syndactyly type 1 with cataracts Trisomy 17q22 Branchiootorenal syndrome 2 MELF Collodion fetus and mental[yumpu.com]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    1C WAGR syndrome Caudal appendage deafness Kearns-Sayre syndrome Cataracts, ataxia, short stature, and mental retardation Usher syndrome type 2A Hermansky Pudlak syndrome[checkrare.com] […] type 2 Idiopathic CD4 positive T-lymphocytopenia Diaphyseal medullary stenosis with malignant fibrous histiocytoma Limb-girdle muscular dystrophy Pseudohypoparathyroidism type[checkrare.com]

  • Hereditary Hyperekplexia

    IA) CPT2 (CPT deficiency, hepatic, type II) CRB1 (Pigmented paravenous chorioretinal atrophy) CRBN (Mental retardation, autosomal recessive 2A) CREBBP (Rubenstein-Taybi syndrome[en.praenatal-medizin.de] […] night blindness, type 2A Mental retardation, X-linked, syndromic 32 Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Microcephaly[amp.pharm.mssm.edu] 1) KCNQ3 (Epilepsy, benign neonatal, type 2) KCNQ4 (Deafness, autosomal dominant 2A) KCNV2 (Retinal cone dystrophy 3B) KCTD7 (Epilepsy, progressive myoclonic 3) KDM5C (Mental[en.praenatal-medizin.de]

  • Familial Pterygium of the Conjunctiva

    1C WAGR syndrome Caudal appendage deafness Kearns-Sayre syndrome Cataracts, ataxia, short stature, and mental retardation Usher syndrome type 2A Hermansky Pudlak syndrome[checkrare.com] […] type 2 Idiopathic CD4 positive T-lymphocytopenia Diaphyseal medullary stenosis with malignant fibrous histiocytoma Limb-girdle muscular dystrophy Pseudohypoparathyroidism type[checkrare.com]

  • Deafness, Autosomal Dominant 23

    1C WAGR syndrome Caudal appendage deafness Kearns-Sayre syndrome Cataracts, ataxia, short stature, and mental retardation Usher syndrome type 2A Hermansky Pudlak syndrome[checkrare.com] Mental retardation, autosomal dominant 11 614257 602879 EPM2A 6q24.3 Epilepsy, progressive myoclonic 2A (Lafora) 254780 607566 Autosomal recessive ERBB3 12q13.2 Lethal congenital[mnglabs.com] […] type 2 Idiopathic CD4 positive T-lymphocytopenia Diaphyseal medullary stenosis with malignant fibrous histiocytoma Limb-girdle muscular dystrophy Pseudohypoparathyroidism type[checkrare.com]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    1C WAGR syndrome Caudal appendage deafness Kearns-Sayre syndrome Cataracts, ataxia, short stature, and mental retardation Usher syndrome type 2A Hermansky Pudlak syndrome[checkrare.com] […] type 2 Idiopathic CD4 positive T-lymphocytopenia Diaphyseal medullary stenosis with malignant fibrous histiocytoma Limb-girdle muscular dystrophy Pseudohypoparathyroidism type[checkrare.com]

  • Autosomal Dominant Deafness 33

    1C WAGR syndrome Caudal appendage deafness Kearns-Sayre syndrome Cataracts, ataxia, short stature, and mental retardation Usher syndrome type 2A Hermansky Pudlak syndrome[checkrare.com] […] type 2 Idiopathic CD4 positive T-lymphocytopenia Diaphyseal medullary stenosis with malignant fibrous histiocytoma Limb-girdle muscular dystrophy Pseudohypoparathyroidism type[checkrare.com]

  • High Myopia-Sensorineural Deafness Syndrome

    1C WAGR syndrome Caudal appendage deafness Kearns-Sayre syndrome Cataracts, ataxia, short stature, and mental retardation Usher syndrome type 2A Hermansky Pudlak syndrome[checkrare.com] […] type 2 Idiopathic CD4 positive T-lymphocytopenia Diaphyseal medullary stenosis with malignant fibrous histiocytoma Limb-girdle muscular dystrophy Pseudohypoparathyroidism type[checkrare.com]

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