Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
- Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders
Version 2.13
Latest signed off version: v2.2
(25 Feb 2020)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- Expert list
Phenotypes
- Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
- Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- Radboud University Medical Center
- Emory Genetics Laboratory
Phenotypes
- Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
- Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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Version 3.15
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
- Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Proportionate Short Stature/Small for Gestational Age
Tags
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
- Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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Version 3.87
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
Phenotypes
- Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
- Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Amber
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
- Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
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Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.18
Latest signed off version: v2.2
(25 Feb 2020)
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- Literature
Phenotypes
- Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
- Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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Version 1.182
|
review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
- Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
- Panhypopituitarism, X-linked, OMIM:312000
- Panhypopituitarism, X-linked, MONDO:0010712
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