Publication Detail

Publication

Yoshizaki Y, Ouchi Y, Kurniawan D, Yumoto E, Yoneyama Y, Rizqullah FR, Sato H, Sarholz MH, Natsume T, Kanemaki MT, Ikeda M, Ui A, Iemura K, Tanaka K, CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency Scientific reports14:31904 2024

PubMed ID: 39738383

Catalog ID	Sex	Age at Sampling	Family	Relationship	Description	Collection_Type_id
GM27961	Female	30 YR	3504	mother	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27963	Female	2 YR	3504	proband	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27968	Male	32 YR	3504	father	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27638	Female	3 YR	3460	proband	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27643	Female	8 YR	3459	proband	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27644	Female	41 YR	3459	mother	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27630	Male	2 YR	3456	proband	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27412	Male	3 YR	3440	proband	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27353	Male	23 MO	3440	proband	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27408	Male	4 YR	3438	proband	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM
GM27912	Female	16 YR		proband	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD	GM