Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated genes and diseases:
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: IGF1
disease_id: ORPHA:73272
disease_name: Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay-deafness-intellectual disability syndrome
Growth delay-hearing loss-intellectual disability syndrome
IGF-1 deficiency
Primary insulin-like growth factor deficiency
gene_symbol: STAT4
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: IL2RB
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: ANKRD55
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: PTPN22
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: CD247
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: IL2RA
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: PTPN2
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: GATA3
disease_id: ORPHA:2237
disease_name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Barakat syndrome
HDR syndrome
Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: LHX4
disease_id: OMIM:262700
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 4
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: RYR1
disease_id: ORPHA:98905
disease_name: Congenital multicore myopathy with external ophthalmoplegia
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: NIN
disease_id: ORPHA:319675
disease_name: Microcephalic primordial dwarfism, Dauber type
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: RPL10
disease_id: ORPHA:435938
disease_name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
gene_symbol: WFS1
disease_id: ORPHA:411590
disease_name: Wolfram-like syndrome
gene_symbol: EMG1
disease_id: ORPHA:1270
disease_name: Bowen-Conradi syndrome
Bowen syndrome, Hutterite type
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
gene_symbol: TBC1D20
disease_id: OMIM:615663
disease_name: WARBURG MICRO SYNDROME 4
gene_symbol: SHPK
disease_id: ORPHA:440713
disease_name: Isolated sedoheptulokinase deficiency
Isolated SHPK deficiency
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: TSHB
disease_id: OMIM:275100
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4