Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction; Cahtp

Description

Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) is an autosomal dominant disorder characterized by onset of this triad of features in infancy. Movement abnormalities begin with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. Some patients show neonatal respiratory distress and developmental delay. The phenotype is variable both between and within families (summary by Thorwarth et al., 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction; Cahtp

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Motor delay
  • Muscular hypotonia
  • Dysarthria
  • Skeletal muscle atrophy
  • Ventricular septal defect
  • Fever
  • Respiratory insufficiency
And another 29 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction; Cahtp Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, RTEL1, DKC1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, PARN, CSF2RA, MUC5B, NKX2-1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FOXF1, SLC7A7, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
13 %
Genes
100 %
Diffuse Lung Disease NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

HPS1, HPS4, AP3B1, FOXF1, TINF2, SLC7A7, DKC1, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
7 %
Genes
100 %
Pulmonary Alveolar Proteinosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FOXF1, SLC7A7, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
13 %
Genes
100 %
Idiopathic Pulmonary Fibrosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

HPS1, HPS4, AP3B1, TINF2, DKC1, TERC, TERT, NKX2-1, ABCA3, SFTPC, SFTPA2
Specificity
10 %
Genes
100 %
Neonatal Respiratory Distress NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FOXF1, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
20 %
Genes
100 %
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

NKX2-1
Specificity
100 %
Genes
100 %
Benign Hereditary Chorea.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

NKX2-1
Specificity
100 %
Genes
100 %
Childhood Interstitial Lung Disease Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

NKX2-1, ABCA3, SFTPC
Specificity
34 %
Genes
100 %
NKX2-1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NKX2-1
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Congenital Hypothyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Basic Fibrosis Panel (12 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, SFTPA1
Specificity
9 %
Genes
100 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Benign hereditary chorea.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

NKX2-1
Specificity
100 %
Genes
100 %
Choreoathetosis, hypothyroidism and neonatal respiratory distress.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

NKX2-1
Specificity
100 %
Genes
100 %
NKX2-1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

NKX2-1
Specificity
100 %
Genes
100 %
Benign Hereditary Chorea.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR in Italy.

NKX2-1
Specificity
100 %
Genes
100 %
NKX2-1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NKX2-1
Specificity
100 %
Genes
100 %
Neonatal Respiratory Distress Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
7 %
Genes
100 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
7 %
Genes
100 %
Neonatal Respiratory Distress Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
7 %
Genes
100 %
Comprehensive Pulmonary-Vascular Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Benign hereditary chorea (deletion/duplication analysis of NKX2-1 gene).

By CGC Genetics in Portugal.

NKX2-1
Specificity
100 %
Genes
100 %
Choreoathetosis and congenital hypothyroidism (sequence analysis of NKX2-1 gene).

By CGC Genetics in Portugal.

NKX2-1
Specificity
100 %
Genes
100 %
Benign hereditary chorea (sequence analysis of NKX2-1 gene).

By CGC Genetics in Portugal.

NKX2-1
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Congenital Hypothyroidism (Thyroid Dysgenesis) via NKX2-1/TTF1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NKX2-1
Specificity
100 %
Genes
100 %
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TERC, ELMOD2, TERT, SFTPD, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
10 %
Genes
100 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMPD1, HPS1, HPS4, STAT3, CFTR, TINF2, TSC2, TSC1, FLCN, SLC7A7, RTEL1, NF1, DKC1, TERC, TERT, PARN, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Chorea, hereditary benign.

By Centogene AG - the Rare Disease Company in Germany.

NKX2-1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Choreatic Movement Disorders Panel.

By CeGaT GmbH in Germany.

HTT, OPA3, GM2A, ATXN1, ATM, C9orf72, ATXN2, ATXN3, ATXN7, TBP, KCNA1, GNAO1, NKX2-1, JPH3, FTL, PDE10A, PRNP, ADCY5, RNF216, FRRS1L , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Single gene testing NKX2-1.

By CeGaT GmbH in Germany.

NKX2-1
Specificity
100 %
Genes
100 %
Hypothyroidism and Thyroid Hormone Resistance.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Chorea, Hereditary benign: TITF1 (NKX2-1) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NKX2-1
Specificity
100 %
Genes
100 %
CONGENITAL HYPOTHYROIDISM.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
NKX2-1.

By Fulgent Genetics Fulgent Genetics in United States.

NKX2-1
Specificity
100 %
Genes
100 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

SLC26A4, SECISBP2, HESX1, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Interstitial Lung Disease Panel.

By Blueprint Genetics in Finland.

SMPD1, HPS1, HPS4, STAT3, TINF2, TSC2, TSC1, SLC7A7, RTEL1, NF1, DKC1, TERC, ELMOD2, TERT, PARN, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Neonatal Respiratory Distress - Surfactant Dysfunction Panel.

By Blueprint Genetics in Finland.

FOXF1, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
20 %
Genes
100 %
Benign familial chorea.

By Bioarray in Spain.

NKX2-1
Specificity
100 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
CONGENITAL HYPOTHYROIDISM – NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SLC26A4, IYD, TSHR, NKX2-1, NKX2-5, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG
Specificity
8 %
Genes
100 %
THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS.

By Laboratorio de Genetica Clinica SL in Spain.

TSHR, NKX2-1, NKX2-5, PAX8, FOXE1
Specificity
20 %
Genes
100 %
CHOREA, HEREDITARY BENIGN.

By Laboratorio de Genetica Clinica SL in Spain.

NKX2-1
Specificity
100 %
Genes
100 %
THYROID CARCINOMA, PAPILLARY.

By Laboratorio de Genetica Clinica SL in Spain.

NKX2-1
Specificity
100 %
Genes
100 %
Benign Hereditary Chorea , Sequencing TITF1 Gene.

By Reference Laboratory Genetics in Spain.

NKX2-1
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism , Sequencing TITF1 (NKX2-1) Gene.

By Reference Laboratory Genetics in Spain.

NKX2-1
Specificity
100 %
Genes
100 %
Benign Hereditary Chorea , Deletions-Duplications (MLPA) TITF1 Gene.

By Reference Laboratory Genetics in Spain.

NKX2-1
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, FOXE1, SLC5A5, TPO, TG
Specificity
6 %
Genes
100 %
Pulmonary Surfactant Metabolism Dysfunction and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
17 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
NKX2-1 Related Disorders: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NKX2-1
Specificity
100 %
Genes
100 %

Alternate names

Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction; Cahtp Is also known as brain-lung-thyroid syndrome;choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome.



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