{
    "disease_id": "DOID:0060935",
    "recommended_name": {
        "id": "DOID:0060935",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060935",
        "name": "infantile hypotonia with psychomotor retardation and characteristic facies-3",
        "description": "An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060935",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060935",
            "name": "IHPRF3",
            "description": ""
        },
        {
            "id": "DOID:0060935",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060935",
            "name": "TBCK-related intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060935",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060935",
            "name": "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3",
            "description": ""
        },
        {
            "id": "MONDO:0014823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014823",
            "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 3",
            "description": "A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features."
        },
        {
            "id": "MONDO:0014823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014823",
            "name": "IHPRF3",
            "description": ""
        },
        {
            "id": "MONDO:0014823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014823",
            "name": "TBCK-related intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014823",
            "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 3",
            "description": ""
        },
        {
            "id": "MONDO:0014823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014823",
            "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies type 3",
            "description": ""
        },
        {
            "id": "MIM:616900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616900",
            "name": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3",
            "description": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060935"
    ],
    "unlinked_id_list": []
}