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This updated list was uploaded to the EI Colorado website 9/1/22
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Medical DiagnosisDiagnosis Details Established Condition?Date Reviewed
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15q11.2 Deletion15q11.2 Deletion or MicrodeletionYes02/06/25
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16p11.2 DeletionAKA Partial Deletion of Chromosome 16pYes12/09/20
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1p36 DeletionChromosome 1p36 Deletion SyndromeYes12/09/20
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1q21.1 microdeletionYes05/31/23
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22q11 DeletionAKA DiGeorge, Velocardiofacial, Deletion 22Q SyndromeYes12/09/20
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2q31-2q36 duplicationYes06/30/23
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3-Methylcrotonyl-Coenzyme A (CoA) Carboxylase DeficiencyNo12/09/20
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3rd Nerve Palsy(aka: Third Nerve Palsy; Third Cranial Nerve Palsy; 3rd Cranial NervePalsy; Oculomotor Palsy; Oculomotor Nerve Palsy; Cranial Nerve III Palsy)No12/09/20
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4p- (Wolf Hirschhorn)AKA Wolf-Hirchhorn SyndYes12/09/20
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5p- (Cri du Chat)Deletion 5p Syndrome (aka: Cri du chat Syndrome; Chromosome 5p-syndrome; Cat's Cry Syndrome; Chromosome 5, Monosomy 5p; Chromosome 5p-Syndrome; Le Jeune Syndrome; Partial Deletion of the Short Arm of Chromosome 5 Syndrome)Yes12/09/20
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5p duplication syndromeChromosome 5p duplicationYes08/17/22
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6q terminal deletion syndromeYes04/02/19
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6th Nerve Palsy(aka: Abducens palsy; Lateral rectus palsy; Cranial mononeuropathy VI)No12/09/20
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Aarskog-Scott SyndromeNo12/09/20
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Abnormal Neurological Exam at Discharge from NICUNo12/09/20
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Absent Septum Pellucidum(aka: Absence Septum Pellucidum, Absent Cavum Septum Pellucidum)No12/09/20
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AchondroplasiaAchondroplasia DwarfismNo12/09/20
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Acid Sphingomyelinase Deficiency(AKA Niemann-Pick Disease A & B)Yes12/09/20
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Acute Lymphoid LeukemiaAcute Lymphoid Leukemia (aka: ALL; Leukemia)No12/09/20
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Adams Oliver Syndrome(aka: AOS; Absence Defect of Limbs, Scalp, and Skull; Congenital Scalp Defects with Distal Limb Reduction Anomalies; Aplasia Cutis Congenita with Terminal Transverse Limb Defects)No12/09/20
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Adjustment DisorderDSM-5, ICD-10 Adjustment Disorder, UnspecifiedYes12/09/20
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Adrenal Hyperplasia, CongenitalAKA: 21 Hydroxylase DeficiencyNo12/09/20
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Adrenal HypoplasiaNo12/09/20
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AdrenoleukodystrophyAdrenoleukodystrophy (aka: ALD; AMN; X-ALD; Addison disease and cerebral sclerosis; Adrenomyeloneuropathy; Siemerling-creutzfeldt disease; Bronze schilder disease; Schilder Disease; Melanodermic Leukodystrophy; sudanophilic leukodystrophy; Pelizaeus Merz...No12/09/20
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Agenesis of Corpus Callosum Agenesis of corpus callosum onlyNo9/22/22
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Agenesis of Corpus Callosum with somatic/CNS changesAgenesis of corpus callosum plus somatic/CNS changes; ACC with somatic/CNS changesYes9/22/22
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Aicardi Syndrome Aicardi Syndrome (aka: Agenesis of Corpus Callosum and Chorioretinal Abnormality; Agenesis of Corpus Callosum With Chorioretinitis Abnormality; Agenesis of Corpus Callosum With Infantile Spasms And Ocular Anomalies; Chorioretinal Anomalies with Agenesis of the Corpus Callosum; Callosal Agenesis and Ocular Abnormalities)Yes9/22/22
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Alagille SyndromeNo06/20/24
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Alcohol-Related Neurodevelopmental Disorder(aka: ARND; Fetal Alcohol Spectrum Disorder; FASD)No12/09/20
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Alexander DiseaseYes12/09/20
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Alper Disease
Alper Disease (aka: Alper's Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis; Alpers Progressive Infantile Poliodystrophy; Christensen's disease; Christensen-Krabbe disease; Diffuse Cerebral Degeneration in Infancy; Poliodystrophia Cerebri Progressiva; Progressive Cerebral Poliodystrophy)
Yes12/09/20
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Alport Syndrome(aka: Hematuria-Nephropathy Deafness; Hemorrhagic Familial Nephritis; Hereditary Deafness and Nephropathy; Hereditary Nephritis With Sensory Deafness; Hereditary Nephritis and Nerve Deafness)No12/09/20
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Alstrom Syndrome(aka: ALMS)No12/09/20
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Amniotic Band Syndrome No12/09/20
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Andersen-Tawil SyndromeNo12/09/20
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AnemiaNo12/09/20
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AnencephalyAnencephalyYes12/09/20
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Angelman SyndromeAngelman Syndrome (aka: AS)Yes12/09/20
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Anophthalmia, bilateralAnophthalmia, bilateralYes12/09/20
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Anophthalmia, unilateralNo12/09/20
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Anoxic Insult to Brain(aka anoxic brain injury)No12/09/20
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Anterior Jaw Displacement(aka: mandibular enlargement; prognathism)No12/09/20
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Anterior Segment DysgenesisNo12/09/20
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Apert SyndromeApert Syndrome (aka: ACS 1; ACS I; Acrocephalosyndactyly, Type I; Syndactylic Oxycephaly)Yes12/09/20
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APGAR score of five or less at five minutesNo12/09/20
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ApraxiaYes12/15/22
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Arachnoid CystNo12/09/20
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Argininosuccinic aciduriaArgininosuccinic aciduria (aka: Arginino Succinase Deficiency; ASA Deficiency; Argininosuccinate Lyase Deficiency; ASL Deficiency)Yes12/09/20
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Arnold-Chiari MalformationAKA: Chiari 1 malformationNo12/09/20
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ArthrogryposisArthrogryposis (aka: arthrogryposis multiplex congenita; AMC; multiple congenital contractures, Freeman Sheldon Syndrome, Gordon Syndrome)Yes12/09/20
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Asphyxia w brain damageAsphyxia Yes12/09/20
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AsthmaNo11/07/22
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Ataxia TelangiectasiaAtaxia Telangiectasia (aka: AT; Cerebello-Oculocutaneous Telangiectasia; Immunodeficiency with Ataxia Telangiectasia)Yes12/09/20
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Auditory Neuropathy(aka: Auditory neuropathy/auditory dyssynchrony; Auditory neuropathy/auditory dys-synchrony; AN/AD)No12/09/20
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Aural Atresia, Bilateral or Unilateral(aka: congenital aural atresia; CAA)No12/09/20
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Autism Spectrum DisorderAutism Spectrum Disorder (aka: Infantile Autism; Kanner Syndrome; Autisitc Disorder; Asperger Syndrome; Asperger's Disorder; Pervasive Developmental Disorder; PDD; Pervasive Developmental Disorder-Not Otherwise Specified; PDD-NOS)Yes12/09/20
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Baller Gerold SyndromeBaller Gerold Syndrome (aka: Craniosynostosis with Radial Defects, Craniosynostosis-Radial Aplasia Syndrome)Yes12/09/20
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Bannayan Riley RuvalcabaBannayan Riley Ruvalcaba (aka: Bannayan Riley Ruvalcaba Syndrome; BRRS, Bannayan-Zonana syndrome (BZS); Macrocephaly, multiple lipomas, and hemangiomata; Macrocephaly, pseudopapilledema, and multiple hemangiomata; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; RMSS; Ruvalcaba Syndrome)Yes12/09/20
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Bardet-Biedl SyndromeBiedl-Bardet Syndrome; Laurence Moon-BiedlYes12/09/20
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Bartter's Syndrome(aka: Hypokalemic Alkalosis with Hypercalciuria)Yes12/09/20
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Beals Syndrome(aka: Beals-Hecht Syndrome; Arachnodactyly, Contractural Beals Type; Contractural Arachnodactyly, Congenital; CCA)No12/09/20
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Beckwith Wiedemann Syndrome(aka: BWS; Beckwith-Syndrome;Exomphalos-Macroglossia-Gigantism Syndrome; EMG Syndrome; Hypoglycemia with Macroglossia; Macroglossia-Omphalocele-Visceromegaly Syndrome; Omphalocele-Visceromegaly-Macroglossia Syndrome; Visceromegaly-Umbilical Hernia-Macrog...No12/09/20
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Benign Enlargement of the Subarachnoid Space in infancy (aka: BESS)No12/09/20
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Benign Hereditary ChoreaBenign Hereditary ChoreaNo12/09/20
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Biliary AtresiaNo12/09/20
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Bjornstad Syndrome(aka: Deafness and Pili Torti, Bjornstad Type; Pili Torti and Nerve Deafness; Pili Torti-Sensorineural Hearing Loss)No12/09/20
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Blue Diaper Syndrome(aka: Drummond's Syndrome: Hypercalcemia, Familial, with Nephrocalcinosis and Indicanuria)No12/09/20
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Borjeson SyndromeYes12/09/20
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Bowen Hutterite Syndrome(aka:Bowen-Conradi Hutterite Syndrome, Bowen-Conradi Syndrome, Hutterite Syndrome, Bowen-Conradi Type)No12/09/20
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Brachial Plexus Palsy(aka: Duchenne's Paralysis, Duchenne-Erb Paralysis, Duchenne-Erb Syndrome, Erb's Paralysis, Erb-Duchenne Palsy, Erb-Duchenne Paralysis, Upper Brachial Plexus Palsy, Erb-Duchenne Type, or Upper Brachial Plexus Paralysis, Erb-Duchenne Type; Brachial Plexus...No12/09/20
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Brain TumorBrain Tumor (aka: brain cancer; brain teratoma; glioma; astrocytoma; glioblastoma multiforme; ependymoma; oligodendroglioma; medulloblastoma; meningioma; Schwannoma; acoustic neuroma; craniopharyngioma; germ cell tumor of the brain; germinoma; pineal region tumor; frontal lobe tumor)Yes12/09/20
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Branchio-oculo-facial Syndrome(aka:BOFS, Branchiooculofacial Syndrome, Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome, Imperforate Nasolacrimal Duct, and Premature Aging Syndrome, Lip Pseudocleft-hemangiomatous Branchial Cyst Syndrome)No12/09/20
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Bronchopulmonary Dysplasia (BPD)No12/09/20
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C SyndromeC Syndrome (aka: Opitz Trigonocephaly Syndrome, Trigonocephaly "C" Syndrome, Trigonocephaly Syndrome)Yes12/09/20
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Carboxylase Deficiency, Multiple(aka: Biotinidase Deficiency, Carboxylase Deficiency, Multiple, Holocarboxylase Synthetase Deficiency, MCD)No12/09/20
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Cardiofaciocutaneous SyndromeCardiofaciocutaneous syndrome (aka: CFC syndrome, Cardio-facial-cutaneous syndrome, Facio-cardio-cutaneous syndrome)Yes12/09/20
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Carpenter Syndrome(aka: ACPS II, Acrocephalopolysyndactyly Type II)No12/09/20
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Cataracts, CongenitalNo12/09/20
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Catel-Manzke Syndrome(aka: Catel-Manzke Type Palatodigital Syndrome, Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome, Index Finger Anomaly with Pierre Robin Syndrome, Pierre Robin Syndrome with Hyperphalangy and Clinodactyly)No12/09/20
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Caudal Regression Syndrome(aka: Caudal Dysplasia; Caudal Dysplasia Sequence; Sacral Agenesis, Congenital; Sacral Regression)No12/09/20
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Cerebellar agenesisCerebellar Agenesis (aka: Cerebellar Aplasia; Cerebellar Hemiagenesis; Cerebellar Hypoplasia; Cerebellar Atrophy)Yes12/09/20
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Cerebral AbscessCerebral abscessNo12/09/20
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Cerebral atrophyCerebral atrophyYes12/09/20
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Cerebral Bleed(aka: intracerebral bleed, cerebral hemorrhage, intracerebral hemorrhage; parenchymal brain hemorrhage; periventricular hemorrhage) see Cerebral Bleed, Grade III & IV below (line 85), Intraventricular Hemorrhage (IVH) Grade I (line 357), or Intraventricular Hemorrhage, Grade II (line 358) for reference if needed Yes12/09/20
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Cerebral Bleed, Grade III & IV(aka: intracerebral bleed, cerebral hemorrhage, intracerebral hemorrhage; parenchymal brain hemorrhage; periventricular hemorrhage), IVH Grade III, IVH Grade IV. See Cerebral Bleed above (line 84), Intraventricular Hemorrhage (IVH) Grade I (line 357), or Intraventricular Hemorrhage, Grade II (line 358) for reference if needed for reference if needed Yes12/09/20
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Cerebral DysgenesisCerebral DysgenesisYes12/09/20
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Cerebral PalsyCerebral Palsy (aka: Ataxia Cerebral Palsy, Athetoid Cerebral Palsy, Congenital Cerebral Palsy, Diplegia of Cerebral Palsy, Hemiparesis of Cerebral Palsy, Hemiplegia of Cerebral Palsy, Hemiplegia, Hemiparesis, Postnatal Cerebral Palsy, Quadriparesis, Quadr...Yes12/09/20
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Cerebrocostomandibular Syndrome(aka: CCM Syndrome, CCMS, Rib Gap Defects with Micrognathia)No12/09/20
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CerebromalaciaCerebromalacia (aka: Encephalomalacia)Yes12/09/20
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CHAMP 1CHAMP 1Yes12/09/20
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Chandler's Syndrome(aka: Dystrophia Endothelialis Cornea, Iris Atrophy with Corneal Edema and Glaucoma)No12/09/20
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CHD7aka: CHARGE syndromeYes12/09/20
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Choanal Atresia (unilateral or bilateral)No12/09/20
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Choroid Plexus CystNo12/09/20
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Chrom 10, Monosomy 10pChromosome 10, Monosomy 10p (aka: 10p Deletion Syndrome (Partial); Chromosome 10, 10p- Partial; Chromosome 10, Partial Deletion (short arm))Yes12/09/20
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Chrom 11, Partial Monosomy 11qChromosome 11, Partial Monosomy 11q (aka: 11q- Syndrome; Partial, Deletion 11q Syndrome, Partial; Distal 11q Monosomy; Distal 11q- Syndrome; JBS; Jacobsen Syndrome; Monosomy 11q, Partial; Partial Monosomy of Long Arm of Chromosome 11)Yes12/09/20
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Chrom 11, Partial Trisomy 11qChromosome 11, Partial Trisomy 11q (aka: 11q Partial Trisomy, Chromosome 11; Partial Trisomy 11q13-qter, Chromosome 11; Partial Trisomy 11q21-qter;, Chromosome 11; Partial Trisomy 11q23-qter; Distal Trisomy 11q; Partial Trisomy 11q; Trisomy 11q, Partial)Yes12/09/20
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Chrom 12 DeletionChromosome 12 deletionYes12/09/20